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.Q298H

c.894G>T

Surrounding Variants

1 paper

NM_000251.3

p.Q298Q

c.894G>A

2 papers

NM_000251.3

p.Q298H

c.894G>C

3 papers

NM_000251.3

p.M300insFs

c.898_899dupAT

1 paper

NM_000251.3

p.Y299delFs

c.895_896delTA

1 paper

NM_000251.3

p.Q298P

c.893A>C

1 paper

NM_000251.3

p.Q298R

c.893A>G

3 papers

NM_000251.3

p.Y299H

c.895T>C

1 paper

NM_000251.3

p.Y299delFs

c.896delA

1 paper

NM_000251.3

p.Y299insFs

c.896_897insG

4 papers

NM_000251.3

p.Y299C

c.896A>G

1 paper

NM_000251.3

p.Y299delFs

c.897delT

22 papers

NM_000251.3

p.Q298*

c.892C>T