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.D319A

c.956A>C

Surrounding Variants

1 paper

NM_000251.3

p.D319V

c.956A>T

2 papers

NM_000251.3

p.D319N

c.955G>A

1 paper

NM_000251.3

p.D319H

c.955G>C

1 paper

NM_000251.3

p.D319insFs

c.956dupA

1 paper

NM_000251.3

p.D319fs

c.955_956fs

3 papers

NM_000251.3

p.D319Y

c.955G>T

1 paper

NM_000251.3

p.D319fs

c.955_956fs

5 papers

NM_000251.3

p.T320insFs

c.958_959insA

2 papers

NM_000251.3

p.T320insFs

c.958_959dupAC

2 papers

NM_000251.3

p.T320delFs

c.958_959delAC

5 papers

NM_000251.3

p.T320fs

c.958_959fs

1 paper

NM_000251.3

p.T320A

c.958A>G