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CanVaS - A Greek Cancer Patient Genetic Variation Resource
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98 entries on 1 page. Showing entries 1 - 98.
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Symbol
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
AIP
aryl hydrocarbon receptor interacting protein
11
q13.2
1
106
34
2020-05-20
PitAP
ALK
ALK receptor tyrosine kinase
2
p23.2-p23.1
1
299
125
2020-10-01
NBLST3
APC
APC regulator of WNT signaling pathway
5
q22.2
3
454
171
2020-12-23
FAP1
ATM
ATM serine/threonine kinase
11
q22.3
1
775
254
2020-11-23
AT, BrCa
BAP1
BRCA1 associated protein 1
3
p21.1
1
243
80
2020-09-01
TPDS
BARD1
BRCA1 associated RING domain 1
2
q35
1
22
9
2020-10-19
-
BLM
BLM RecQ like helicase
15
q26.1
1
286
111
2020-10-07
BLM
BMPR1A
bone morphogenetic protein receptor type 1A
10
q23.2
1
101
49
2020-10-07
JPS
BRCA1
BRCA1 DNA repair associated
17
q21.31
5
1134
215
2020-12-24
BrCa, BROVCA1, FANCS, PNCA4
BRCA2
BRCA2 DNA repair associated
13
q13.1
1
937
285
2020-11-23
BrCa, BROVCA2, FANCD1, GLM3, MDB, PNCA2, PrCa, WT1
BRIP1
BRCA1 interacting protein C-terminal helicase 1
17
q23.2
1
209
87
2020-11-04
BrCa, FANCJ
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
15
q15.1
1
199
74
2020-10-07
MVA1, PCS
CDC73
cell division cycle 73
1
q31.2
1
80
45
2020-05-20
HRPT1, HRPT2, PRTC
CDH1
cadherin 1
16
q22.1
1
288
74
2020-12-23
BCDS1, BrCa, CDH1, PrCa
CDK4
cyclin dependent kinase 4
12
q14.1
1
55
23
2020-05-20
CMM3
CDKN1C
cyclin dependent kinase inhibitor 1C
11
p15.4
3
48
25
2020-12-23
BWS, IMAGE
CDKN2A
cyclin dependent kinase inhibitor 2A
9
p21.3
4
52
28
2020-09-10
CMM2, MAS, MPCS
CEBPA
CCAAT enhancer binding protein alpha
19
q13.11
1
41
17
2020-05-20
AML
CEP57
centrosomal protein 57
11
q21
3
122
44
2020-06-05
MVA2
CHEK2
checkpoint kinase 2
22
q12.1
4
430
93
2020-12-23
BrCa, PrCa
CYLD
CYLD lysine 63 deubiquitinase
16
q12.1
3
98
41
2020-09-17
BRSS, FCyl, MFT1
DDB2
damage specific DNA binding protein 2
11
p11.2
1
85
35
2020-05-20
XPE
DICER1
dicer 1, ribonuclease III
14
q32.13
4
196
98
2020-10-07
MNG1, PPB, RMSE2
DIS3L2
DIS3 like 3'-5' exoribonuclease 2
2
q37.1
3
382
112
2020-12-23
PRLMNS
EGFR
epidermal growth factor receptor
7
p11.2
4
297
86
2020-12-23
LuCa, NISBD2
EPCAM
epithelial cell adhesion molecule
2
p21
1
127
50
2020-10-07
DIAR5, HNPCC8
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
19
q13.32
2
221
130
2020-09-17
COFS2, XPD
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
2
q14.3
1
214
74
2020-10-07
TTD2, XPB
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
16
p13.12
1
184
62
2020-09-17
FANCQ, XFEPS, XPF
ERCC5
ERCC excision repair 5, endonuclease
13
q33.1
1
257
97
2020-10-07
COFS3, XPG
EXT1
exostosin glycosyltransferase 1
8
q24.11
1
57
31
2020-05-20
ChonSar, EXT1
EXT2
exostosin glycosyltransferase 2
11
p11.2
3
117
58
2020-10-01
EXT2, SSMS
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
7
q36.1
5
119
63
2020-09-17
WVS
FANCA
FA complementation group A
16
q24.3
2
653
238
2020-10-07
FANCA
FANCB
FA complementation group B
X
p22.2
2
82
30
2020-10-07
FANCB
FANCC
FA complementation group C
9
q22.32
3
160
53
2020-10-01
FANCC
FANCD2
FA complementation group D2
3
p25.3
2
478
153
2020-12-23
FANCD2
FANCE
FA complementation group E
6
p21.31
1
159
52
2020-09-17
FANCE
FANCF
FA complementation group F
11
p14.3
1
83
24
2020-10-07
FANCF
FANCG
FA complementation group G
9
p13.3
1
77
41
2020-10-07
FANCG
FANCI
FA complementation group I
15
q26.1
2
402
135
2020-10-07
FANCI
FANCL
FA complementation group L
2
p16.1
2
122
47
2020-10-07
FANCL
FANCM
FA complementation group M
14
q21.2
1
295
128
2020-09-23
POF15, SPGF28
FH
fumarate hydratase
1
q43
1
78
46
2020-05-20
FMRD, HLRCC
FLCN
folliculin
17
p11.2
2
190
59
2020-11-15
BHD, PSP
GATA2
GATA binding protein 2
3
q21.3
3
41
30
2020-05-20
AML, EmbS, IMD21
GPC3
glypican 3
X
q26.2
4
81
26
2020-12-23
SGBS1
HNF1A
HNF1 homeobox A
12
q24.31
1
180
62
2020-05-20
IDDM, MODY3, NIDDM, RCC
HRAS
HRas proto-oncogene, GTPase
11
p15.5
3
52
21
2020-10-07
CSTLO
KIT
KIT proto-oncogene, receptor tyrosine kinase
4
q12
2
264
71
2020-06-29
AML, GIST, MASTC, PBT
MAX
MYC associated factor X
14
q23.3
7
24
18
2020-10-07
Pheo
MEN1
menin 1
11
q13
7
108
44
2020-12-23
MEN1
MET
MET proto-oncogene, receptor tyrosine kinase
7
q31
2
218
76
2020-11-12
DFNB97, OSFD, RCCP1
MLH1
mutL homolog 1
3
p22.2
7
887
139
2020-10-07
HNPCC2, MMRCS, MRTES
MSH2
mutS homolog 2
2
p21-p16.3
2
356
106
2020-12-23
HNPCC1, MMRCS, MRTES
MSH6
mutS homolog 6
2
p16.3
4
376
109
2020-11-23
ENC, HNPCC5, MMRCS
MUTYH
mutY DNA glycosylase
1
p34.1
6
274
74
2020-12-23
FAP2
NBN
nibrin
8
q21.3
1
139
58
2020-09-23
AplAn, NBS
NF1
neurofibromin 1
17
q11.2
3
536
234
2020-12-23
NF1
NF2
neurofibromin 2
22
q12.2
9
87
45
2020-10-01
NF2
NSD1
nuclear receptor binding SET domain protein 1
5
q35.3
2
219
109
2020-12-06
AML, SOTOS1
NTHL1
nth like DNA glycosylase 1
16
p13.3
1
4
1
2020-09-08
BrCa, FAP3
PALB2
partner and localizer of BRCA2
16
p12.2
1
286
85
2020-12-23
BrCa, FANCN, PNCA3
PHOX2B
paired like homeobox 2B
4
p13
1
53
28
2020-09-08
CCHS, NBLST2
PMS1
PMS1 homolog 1, mismatch repair system component
2
q32.2
3
126
61
2020-05-20
-
PMS2
PMS1 homolog 2, mismatch repair system component
7
p22.1
1
421
108
2020-10-07
HNPCC4, MMRCS
PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D
17
q23.3
1
28
16
2020-11-02
-
PRF1
perforin 1
10
q22.1
2
176
41
2020-05-20
AplAn, FHL2, NHL
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
17
q24.2
5
97
32
2020-05-20
ACRDYS1, CNC1, InCardMyx, PPNAD1
PTCH1
patched 1
9
q22.32
7
362
132
2020-10-07
BCNS, HPE7
PTEN
phosphatase and tensin homolog
10
q23.31
1
103
23
2020-12-23
CWS1, FMNG, MCAS, VACTERL-H
RAD51C
RAD51 paralog C
17
q22
2
154
40
2020-10-27
BrCa, BROVCA3, FANCO
RAD51D
RAD51 paralog D
17
q12
3
48
34
2020-10-27
BrCa, BROVCA4
RB1
RB transcriptional corepressor 1
13
q14.2
1
411
95
2020-08-31
RB1
RECQL4
RecQ like helicase 4
8
q24.3
1
722
232
2020-12-23
BGS, RPDLN, RTS
RET
ret proto-oncogene
10
q11.21
2
262
118
2020-12-23
CCHS, HSCR1, MEN2A, MEN2B, MTC, Pheo
RHBDF2
rhomboid 5 homolog 2
17
q25.1
2
223
74
2020-10-07
TOC
RUNX1
RUNX family transcription factor 1
21
q22.12
3
79
29
2020-05-20
AML, FPDMM
SBDS
SBDS ribosome maturation factor
7
q11.21
1
147
31
2020-10-19
AplAn, SDS1
SDHAF2
succinate dehydrogenase complex assembly factor 2
11
q12.2
1
28
13
2020-05-20
PGL2
SDHB
succinate dehydrogenase complex iron sulfur subunit B
1
p36.13
1
168
36
2020-11-02
GIST, PGL2, PGL4, PGLGSS, Pheo
SDHC
succinate dehydrogenase complex subunit C
1
q23.3
5
96
28
2020-09-17
GIST, PGL3, PGLGSS
SDHD
succinate dehydrogenase complex subunit D
11
q23.1
4
49
13
2020-10-07
MC2D, PGL1, PGLGSS, Pheo
SLX4
SLX4 structure-specific endonuclease subunit
16
p13.3
1
558
174
2020-12-23
FANCP
SMAD4
SMAD family member 4
18
q21.2
1
119
42
2020-09-17
JPHT, JPS, MYHRS
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
19
p13.2
7
4
1
2020-09-24
OVCA
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
22
q11.23
2
87
27
2020-06-05
CSS3, RTPS1, SWNTS1
STK11
serine/threonine kinase 11
19
p13.3
1
111
65
2020-11-09
PANCA, PJS
SUFU
SUFU negative regulator of hedgehog signaling
10
q24.32
2
139
30
2020-11-10
BCNS, FMNG, JBTS32, MDB
TMEM127
transmembrane protein 127
2
q11.2
2
27
16
2020-05-20
Pheo
TP53
tumor protein p53
17
p13.1
15
132
45
2020-11-23
ADCC, BCC7, BMFS5, BrCa, CPP, CRC, GLM1, LFS, OSRC
TSC1
TSC complex subunit 1
9
q34
3
217
85
2020-05-27
LAM, TSC1
TSC2
TSC complex subunit 2
16
p13.3
3
902
323
2020-12-23
LAM, TSC2
VHL
von Hippel-Lindau tumor suppressor
3
p25.3
2
76
38
2020-11-23
ECYT2, Pheo, VHL
WRN
WRN RecQ like helicase
8
p12
1
422
135
2020-10-07
WRN
WT1
WT1 transcription factor
11
p13
5
115
39
2020-06-05
DDS, FRSR, MCHM, NPHS4, WT1
XPA
XPA, DNA damage recognition and repair factor
9
q22.33
1
37
26
2020-05-20
XPA
XPC
XPC complex subunit, DNA damage recognition and repair factor
3
p25.1
2
268
73
2020-10-19
XPC
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