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.K151N

c.453A>T

Surrounding Variants

1 paper

NM_000251.3

p.K151N

c.453A>C

1 paper

NM_000251.3

p.M152insFs

c.454_455insC

3 papers

NM_000251.3

p.M152fs

c.454_455fs

1 paper

NM_000251.3

p.M152insFs

c.455dupT

1 paper

NM_000251.3

p.K151T

c.452A>C

1 paper

NM_000251.3

p.K151R

c.452A>G

1 paper

NM_000251.3

p.K151_S153Fs

c.452_457delinsCCCCGFs

4 papers

NM_000251.3

p.M152fs

c.454_455fs

1 paper

NM_000251.3

p.K151E

c.451A>G

2 papers

NM_000251.3

p.K151*

c.451A>T

5 papers

NM_000251.3

p.M152T

c.455T>C

1 paper

NM_000251.3

p.M152R

c.455T>G