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

1 paper

NM_000251.3

p.G628G

c.1884A>T

Surrounding Variants

1 paper

NM_000251.3

p.G628G

c.1884A>G

1 paper

NM_000251.3

p.Q629delFs

c.1885delC

1 paper

NM_000251.3

p.Q629fs

c.1885_1886fs

1 paper

NM_000251.3

p.Q629E

c.1885C>G

8 papers

NM_000251.3

p.Q629*

c.1885C>T

7 papers

NM_000251.3

p.G630_R631delFs

c.1889_1892del4

1 paper

NM_000251.3

p.G628E

c.1883G>A

2 papers

NM_000251.3

p.G628V

c.1883G>T

47 papers

NM_000251.3

p.Q629R

c.1886A>G

1 paper

NM_000251.3

p.G628R

c.1882G>A

1 paper

NM_000251.3

p.G628R

c.1882G>C

1 paper

NM_000251.3

p.G628fs

c.1882_1883fs