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.M141delFs

c.422delT

Surrounding Variants

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

4 papers

NM_000251.3

p.M141fs

c.421_422fs

2 papers

NM_000251.3

p.M141T

c.422T>C

1 paper

NM_000251.3

p.M141_A154del14

c.421_461del42

1 paper

NM_000251.3

p.M141delFs

c.423delG

7 papers

NM_000251.3

p.D140insFs

c.420dupT

1 paper

NM_000251.3

p.D140A

c.419A>C

4 papers

NM_000251.3

p.D140G

c.419A>G

1 paper

NM_000251.3

p.D140delFs

c.420delT

2 papers

NM_000251.3

p.M141I

c.423G>A