Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000251.3

p.C404fs

c.1210_1211fs

Surrounding Variants

1 paper

NM_000251.3

p.C404insFs

c.1211dupG

1 paper

NM_000251.3

p.C404delFs

c.1211delG

2 papers

NM_000251.3

p.C404fs

c.1210_1211fs

2 papers

NM_000251.3

p.C404F

c.1211G>T

2 papers

NM_000251.3

p.Y405delFs

c.1213delT

1 paper

NM_000251.3

p.C404_Y405delFs

c.1212_1213delTT

1 paper

NM_000251.3

p.D403_C404insFs

c.1209_1210insC

2 papers

NM_000251.3

p.C404delFs

c.1210_1211delTG

1 paper

NM_000251.3

p.C404_L407del4

c.1210_1220del12

1 paper

NM_000251.3

p.C404insFs

c.1210dupT

2 papers

NM_000251.3

p.D403G

c.1208A>G

3 papers

NM_000251.3

p.D403delFs

c.1209delT