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

3 papers

NM_000251.3

p.D295E

c.885C>A

Surrounding Variants

1 paper

NM_000251.3

p.D295_F296insFs

c.885_886ins8

1 paper

NM_000251.3

p.F296insFs

c.887dupT

4 papers

NM_000251.3

p.D295E

c.885C>G

1 paper

NM_000251.3

p.D295insFs

c.885dupC

3 papers

NM_000251.3

p.D295G

c.884A>G

1 paper

NM_000251.3

p.D295delFs

c.885delC

2 papers

NM_000251.3

p.F296L

c.886T>C

2 papers

NM_000251.3

p.F296fs

c.886_887fs

1 paper

NM_000251.3

p.F296fs

c.886_887fs

1 paper

NM_000251.3

p.F296_S297del1

c.887_889delTCA

1 paper

NM_000251.3

p.D295Y

c.883G>T

2 papers

NM_000251.3

p.F296Y

c.887T>A