MSH6 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

MSH6 (mutS homolog 6)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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MSH6 gene homepage

General information
Gene symbol	MSH6
Gene name	mutS homolog 6
Chromosome	2
Chromosomal band	p16.3
Imprinted	Unknown
Genomic reference	LRG_219
Transcript reference	NM_000179.2, NM_001281492.1, NM_001281493.1, NM_001281494.1
Associated with diseases	ENC, HNPCC5, MMRCS
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	383
Unique public DNA variants reported	111
Individuals with public variants	433
Hidden variants	0
Date created	May 20, 2020
Date last updated	November 23, 2020
Version	MSH6:201123

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	7329
Entrez Gene	2956
PubMed articles	MSH6
OMIM - Gene	600678
OMIM - Diseases	ENC (Endometrial cancer, familial) HNPCC5 (Colorectal cancer, hereditary nonpolyposis, type 5) MMRCS (Mismatch repair cancer syndrome)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000131	2	mutS homolog 6 (E. coli), transcript variant 1	NM_000179.2	NP_000170.1	383
00000132	2	mutS homolog 6 (E. coli), transcript variant 2	NM_001281492.1	NP_001268421.1	383
00000133	2	mutS homolog 6 (E. coli), transcript variant 3	NM_001281493.1	NP_001268422.1	383
00000134	2	mutS homolog 6 (E. coli), transcript variant 4	NM_001281494.1	NP_001268423.1	383

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