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

3 papers

NM_000251.3

p.A2E

c.5C>A

Surrounding Variants

1 paper

NM_000251.3

p.A2insFs

c.5_6insA

1 paper

NM_000251.3

p.A2insFs

c.6dupG

8 papers

NM_000251.3

p.A2V

c.5C>T

25 papers

NM_000251.3

p.A2T

c.4G>A

1 paper

NM_000251.3

p.A2A

c.6G>A

1 paper

NM_000251.3

p.A2P

c.4G>C

1 paper

NM_000251.3

p.A2A

c.6G>C

1 paper

NM_000251.3

p.A2Fs

c.6delinsCCFs

6 papers

NM_000251.3

p.A2S

c.4G>T

1 paper

NM_000251.3

p.A2A

c.6G>T

1 paper

NM_000251.3

p.A2delFs

c.5delC

1 paper

NM_000251.3

p.A2_V3delins

c.6_7delinsCT