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.R638_H639del2

c.1912_1916del6

Surrounding Variants

1 paper

NM_000251.3

p.S637_R638delins

c.1911_1912delinsAT

1 paper

NM_000251.3

p.R638delFs

c.1912delA

1 paper

NM_000251.3

p.R638_V642insFs

c.1913_1926dup14

2 papers

NM_000251.3

p.R638fs

c.1912_1913fs

7 papers

NM_000251.3

p.R638G

c.1912A>G

4 papers

NM_000251.3

p.R638fs

c.1912_1913fs

1 paper

NM_000251.3

p.R638_I648insFs

c.1914_1942dup29

2 papers

NM_000251.3

p.H639_A640delFs

c.1916_1919del4

1 paper

NM_000251.3

p.S637T

c.1909T>A

2 papers

NM_000251.3

p.S637A

c.1909T>G

8 papers

NM_000251.3

p.S637delFs

c.1910delC

1 paper

NM_000251.3

p.S637delFs

c.1910_1911delCC