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

14 papers

NM_000251.3

p.R227S

c.681A>T

Surrounding Variants

1 paper

NM_000251.3

p.R227S

c.681A>C

3 papers

NM_000251.3

p.K228E

c.682A>G

10 papers

NM_000251.3

p.K229insFs

c.687dupA

1 paper

NM_000251.3

p.R227I

c.680G>T

23 papers

NM_000251.3

p.K229delFs

c.687delA

3 papers

NM_000251.3

p.K229delFs

c.686_687delAA

6 papers

NM_000251.3

p.R227fs

c.679_680fs

1 paper

NM_000251.3

p.R227delins

c.679delinsT

8 papers

NM_000251.3

p.R227fs

c.679_680fs

1 paper

NM_000251.3

p.R227_K229Fs

c.679_687delinsTTCCTAAAAAFs

12 papers

NM_000251.3

p.K229_A230del2

c.685_689del6

4 papers

NM_000251.3

p.R227delFs

c.680_681delGA