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.T293S

c.878C>G

Surrounding Variants

1 paper

NM_000251.3

p.F294insFs

c.882dupT

1 paper

NM_000251.3

p.F294_F296insFs

c.880_887dup8

2 papers

NM_000251.3

p.T293I

c.878C>T

5 papers

NM_000251.3

p.F294delFs

c.882delT

4 papers

NM_000251.3

p.F294delFs

c.881_882delTT

1 paper

NM_000251.3

p.T293_D295Fs

c.878_883delinsTTCGFs

1 paper

NM_000251.3

p.T293insFs

c.878dupC

1 paper

NM_000251.3

p.T293fs

c.877_878fs

2 papers

NM_000251.3

p.T293A

c.877A>G

1 paper

NM_000251.3

p.T293S

c.877A>T

1 paper

NM_000251.3

p.T293delFs

c.878_879delCT

2 papers

NM_000251.3

p.T293fs

c.877_878fs