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.Q215K

c.643C>A

Surrounding Variants

1 paper

NM_000251.3

p.Q215insFs

c.644dupA

1 paper

NM_000251.3

p.Q215insFs

c.643_644insG

1 paper

NM_000251.3

p.Q215fs

c.643_644fs

15 papers

NM_000251.3

p.Q215*

c.643C>T

2 papers

NM_000251.3

p.Q215delFs

c.644delA

2 papers

NM_000251.3

p.Q215fs

c.643_644fs

2 papers

NM_000251.3

p.Q215R

c.644A>G

2 papers

NM_000251.3

p.Q215delFs

c.643delC

1 paper

NM_000251.3

p.R214K

c.641G>A

1 paper

NM_000251.3

p.R214Fs

c.641delinsACATAGTAFs

1 paper

NM_000251.3

p.R214insFs

c.641_642ins20

6 papers

NM_000251.3

p.R214I

c.641G>T