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.T8insFs

c.22dupA

Surrounding Variants

1 paper

NM_000251.3

p.T8delFs

c.22delA

1 paper

NM_000251.3

p.T8delFs

c.22_23delAC

1 paper

NM_000251.3

p.T8_A15del8

c.22_44del24

1 paper

NM_000251.3

p.T8insFs

c.23dupC

4 papers

NM_000251.3

p.E7insFs

c.21dupG

2 papers

NM_000251.3

p.T8fs

c.22_23fs

1 paper

NM_000251.3

p.E7insFs

c.20_21ins20

1 paper

NM_000251.3

p.E7A

c.20A>C

4 papers

NM_000251.3

p.T8A

c.22A>G

3 papers

NM_000251.3

p.E7G

c.20A>G

4 papers

NM_000251.3

p.T8S

c.22A>T

2 papers

NM_000251.3

p.E7V

c.20A>T