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.N127fs

c.379_380fs

Surrounding Variants

4 papers

NM_000251.3

p.N127fs

c.379_380fs

2 papers

NM_000251.3

p.N127D

c.379A>G

4 papers

NM_000251.3

p.N127delFs

c.380_381delAT

1 paper

NM_000251.3

p.L128_I134Fs

c.382_402delinsTFs

1 paper

NM_000251.3

p.N127T

c.380A>C

56 papers

NM_000251.3

p.N127S

c.380A>G

4 papers

NM_000251.3

p.N127I

c.380A>T

16 papers

NM_000251.3

p.S129_Q130delFs

c.387_388delTC

1 paper

NM_000251.3

p.N127_L128delins

c.381_382delinsTC

2 papers

NM_000251.3

p.N127insFs

c.380dupA

1 paper

NM_000251.3

p.G126G

c.378C>G

1 paper

NM_000251.3

p.N127delFs

c.379delA