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.I632_I633delFs

c.1894_1898del5

Surrounding Variants

1 paper

NM_000251.3

p.R631S

c.1893A>C

1 paper

NM_000251.3

p.I632_I633insT

c.1894_1898ins3

3 papers

NM_000251.3

p.I632V

c.1894A>G

1 paper

NM_000251.3

p.R631K

c.1892G>A

1 paper

NM_000251.3

p.R631insFs

c.1892_1893insA

1 paper

NM_000251.3

p.R631I

c.1892G>T

1 paper

NM_000251.3

p.R631delFs

c.1893delA

1 paper

NM_000251.3

p.R631_L634Fs

c.1892_1902delinsTAAAFs

1 paper

NM_000251.3

p.R631fs

c.1891_1892fs

3 papers

NM_000251.3

p.I633_L634delFs

c.1899_1900delAT

2 papers

NM_000251.3

p.G630G

c.1890A>C

1 paper

NM_000251.3

p.R631_I632del2

c.1891_1895del6