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.V148V

c.444G>A

Surrounding Variants

1 paper

NM_000251.3

p.V148V

c.444G>T

2 papers

NM_000251.3

p.G149S

c.445G>A

1 paper

NM_000251.3

p.G149insFs

c.445_446insT

1 paper

NM_000251.3

p.G149C

c.445G>T

2 papers

NM_000251.3

p.V148E

c.443T>A

1 paper

NM_000251.3

p.G149insFs

c.445dupG

1 paper

NM_000251.3

p.G149delFs

c.445delG

10 papers

NM_000251.3

p.G149D

c.446G>A

3 papers

NM_000251.3

p.V148M

c.442G>A

1 paper

NM_000251.3

p.G149Fs

c.446delinsATFs

2 papers

NM_000251.3

p.V148L

c.442G>C

1 paper

NM_000251.3

p.G149A

c.446G>C