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.S142_A143insFs

c.425_429dup5

Surrounding Variants

2 papers

NM_000251.3

p.M141I

c.423G>A

2 papers

NM_000251.3

p.M141I

c.423G>C

2 papers

NM_000251.3

p.M141I

c.423G>T

2 papers

NM_000251.3

p.M141T

c.422T>C

1 paper

NM_000251.3

p.S142A

c.424T>G

1 paper

NM_000251.3

p.M141delFs

c.423delG

4 papers

NM_000251.3

p.M141fs

c.421_422fs

1 paper

NM_000251.3

p.M141insFs

c.421_422insT

6 papers

NM_000251.3

p.M141V

c.421A>G

1 paper

NM_000251.3

p.M141delFs

c.422delT

4 papers

NM_000251.3

p.M141fs

c.421_422fs

7 papers

NM_000251.3

p.S142*

c.425C>A