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.A154insFs

c.460dupG

Surrounding Variants

2 papers

NM_000251.3

p.S153S

c.459C>T

1 paper

NM_000251.3

p.A154delFs

c.460delG

1 paper

NM_000251.3

p.A154_V163del10

c.460_488del30

3 papers

NM_000251.3

p.S153C

c.458C>G

1 paper

NM_000251.3

p.S153F

c.458C>T

6 papers

NM_000251.3

p.A154T

c.460G>A

1 paper

NM_000251.3

p.A154fs

c.460_461fs

4 papers

NM_000251.3

p.A154_V155insG

c.460_464ins3

1 paper

NM_000251.3

p.A154S

c.460G>T

1 paper

NM_000251.3

p.A154fs

c.460_461fs

2 papers

NM_000251.3

p.A154G

c.461C>G

1 paper

NM_000251.3

p.A154V

c.461C>T