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

1 paper

NM_000251.3

p.V684insFs

c.2050_2051dupGT

Surrounding Variants

1 paper

NM_000251.3

p.G683_V684ins1

c.2049_2050insAGT

1 paper

NM_000251.3

p.G683E

c.2048G>A

1 paper

NM_000251.3

p.G683A

c.2048G>C

2 papers

NM_000251.3

p.V684fs

c.2050_2051fs

4 papers

NM_000251.3

p.G683V

c.2048G>T

4 papers

NM_000251.3

p.V684fs

c.2050_2051fs

26 papers

NM_000251.3

p.G683R

c.2047G>A

23 papers

NM_000251.3

p.G683R

c.2047G>C

1 paper

NM_000251.3

p.G683fs

c.2047_2048fs

3 papers

NM_000251.3

p.G683W

c.2047G>T

1 paper

NM_000251.3

p.G683_V686delFs

c.2048_2058del11

1 paper

NM_000251.3

p.V684G

c.2051T>G