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

2 papers

NM_000251.3

p.L135F

c.403C>T

Surrounding Variants

1 paper

NM_000251.3

p.L135I

c.403C>A

1 paper

NM_000251.3

p.L135insFs

c.404dupT

4 papers

NM_000251.3

p.L135V

c.403C>G

1 paper

NM_000251.3

p.L135fs

c.403_404fs

1 paper

NM_000251.3

p.L135_F136delFs

c.404_407del4

1 paper

NM_000251.3

p.I134I

c.402T>A

1 paper

NM_000251.3

p.L135_F136insFs

c.405_406insA

7 papers

NM_000251.3

p.F136delFs

c.408delT

1 paper

NM_000251.3

p.I134T

c.401T>C

1 paper

NM_000251.3

p.I134fs

c.400_401fs

1 paper

NM_000251.3

p.I134insFs

c.402dupT

1 paper

NM_000251.3

p.I134V

c.400A>G