Transcript #00000055

Transcript name excision repair cross-complementing rodent repair deficiency, complementation group 2, transcript variant 1
Gene name ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit)
Chromosome 19
Transcript - NCBI ID NM_000400.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000391.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

212 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-24C>A r.(=) p.(=)
./. - c.5+45_5+46insG r.(=) p.(=)
./. - c.5+45_5+46insG r.(=) p.(=)
./. - c.5+45_5+46insG r.(=) p.(=)
./. - c.5+45_5+46insG r.(=) p.(=)
./. - c.5+45_5+46insG r.(=) p.(=)
./. - c.5+45_5+46insG r.(=) p.(=)
./. - c.5+45_5+46insG r.(=) p.(=)
./. - c.6-11C>T r.(=) p.(=)
./. - c.6-5G>A r.spl? p.?
./. - c.6-5G>A r.spl? p.?
./. - c.6-5G>A r.spl? p.?
./. - c.6-5G>A r.spl? p.?
./. - c.6-5G>A r.spl? p.?
./. - c.57C>T r.(=) p.(=)
./. - c.86A>C r.(?) p.(Lys29Thr)
./. - c.105+32C>T r.(=) p.(=)
./. - c.183+25A>G r.(=) p.(=)
./. - c.184-34C>T r.(=) p.(=)
./. - c.184-6C>T r.(=) p.(=)
./. - c.184-5G>T r.spl? p.?
./. - c.192G>A r.(=) p.(=)
./. - c.255A>G r.(=) p.(=)
./. - c.275A>G r.(?) p.(Asn92Ser)
./. - c.303G>C r.(?) p.(Lys101Asn)
./. - c.309G>A r.(=) p.(=)
./. - c.309G>A r.(=) p.(=)
./. - c.360+18C>T r.(=) p.(=)
./. - c.373C>T r.(?) p.(Arg125Cys)
./. - c.373C>T r.(?) p.(Arg125Cys)
./. - c.381G>A r.(=) p.(=)
./. - c.381G>A r.(=) p.(=)
./. - c.390del r.(?) p.(Asp131Metfs*50)
./. - c.402C>G r.(?) p.(Cys134Trp)
./. - c.428G>A r.(?) p.(Arg143Gln)
./. - c.442C>T r.(?) p.(His148Tyr)
./. - c.491A>G r.(?) p.(His164Arg)
./. - c.557G>A r.(?) p.(Arg186His)
./. - c.594+2_594+5del r.spl? p.?
./. - c.594+32G>A r.(=) p.(=)
./. - c.601C>T r.(?) p.(His201Tyr)
./. - c.601C>T r.(?) p.(His201Tyr)
./. - c.601C>T r.(?) p.(His201Tyr)
./. - c.601C>T r.(?) p.(His201Tyr)
./. - c.601C>T r.(?) p.(His201Tyr)
./. - c.615G>C r.(=) p.(=)
./. - c.679C>T r.(?) p.(Arg227Cys)
./. - c.687C>T r.(=) p.(=)
./. - c.718+14C>T r.(=) p.(=)
./. - c.718+14C>T r.(=) p.(=)
./. - c.718+14C>T r.(=) p.(=)
./. - c.816-2A>G r.spl? p.?
./. - c.839G>A r.(?) p.(Arg280His)
./. - c.946C>G r.(?) p.(Gln316Glu)
./. - c.949+9C>T r.(=) p.(=)
./. - c.949+21_949+22insT r.(=) p.(=)
./. - c.974C>T r.(?) p.(Thr325Met)
./. - c.1033C>T r.(?) p.(Arg345Cys)
./. - c.1106G>A r.(?) p.(Arg369His)
./. - c.1106G>A r.(?) p.(Arg369His)
./. - c.1106G>A r.(?) p.(Arg369His)
./. - c.1106G>A r.(?) p.(Arg369His)
./. - c.1118+21C>T r.(=) p.(=)
./. - c.1118+29G>A r.(=) p.(=)
./. - c.1118+44C>T r.(=) p.(=)
./. - c.1119-5G>A r.spl? p.?
./. - c.1146G>C r.(=) p.(=)
./. - c.1160A>C r.(?) p.(Glu387Ala)
./. - c.1188G>A r.(=) p.(=)
./. - c.1214C>T r.(?) p.(Thr405Ile)
./. - c.1230C>T r.(=) p.(=)
./. - c.1237+20T>A r.(=) p.(=)
./. - c.1237+20T>A r.(=) p.(=)
./. - c.1237+20T>A r.(=) p.(=)
./. - c.1238-44G>T r.(=) p.(=)
./. - c.1267G>A r.(?) p.(Asp423Asn)
./. - c.1307+14C>T r.(=) p.(=)
./. - c.1307+42G>A r.(=) p.(=)
./. - c.1308-30_1308-29insC r.(=) p.(=)
./. - c.1308-30_1308-29insC r.(=) p.(=)
./. - c.1308-22C>T r.(=) p.(=)
./. - c.1308-10C>T r.(=) p.(=)
./. - c.1308-10C>T r.(=) p.(=)
./. - c.1308-10C>T r.(=) p.(=)
./. - c.1317C>T r.(=) p.(=)
./. - c.1339G>A r.(?) p.(Val447Ile)
./. - c.1377G>A r.(=) p.(=)
./. - c.1377+8C>T r.(=) p.(=)
./. - c.1377+8C>T r.(=) p.(=)
./. - c.1377+16C>T r.(=) p.(=)
./. - c.1377+27A>G r.(=) p.(=)
./. - c.1377+27A>G r.(=) p.(=)
./. - c.1378-37C>G r.(=) p.(=)
./. - c.1378-8C>T r.(=) p.(=)
./. - c.1378-8C>T r.(=) p.(=)
./. - c.1378-8C>T r.(=) p.(=)
./. - c.1389G>A r.(=) p.(=)
./. - c.1403C>T r.(?) p.(Pro468Leu)
./. - c.1403C>T r.(?) p.(Pro468Leu)
./. - c.1403C>T r.(?) p.(Pro468Leu)
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