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.S142delFs

c.426delA

Surrounding Variants

7 papers

NM_000251.3

p.S142*

c.425C>A

8 papers

NM_000251.3

p.S142*

c.425C>G

1 paper

NM_000251.3

p.S142L

c.425C>T

2 papers

NM_000251.3

p.A143insFs

c.427_428insG

1 paper

NM_000251.3

p.S142A

c.424T>G

2 papers

NM_000251.3

p.M141I

c.423G>A

2 papers

NM_000251.3

p.A143T

c.427G>A

2 papers

NM_000251.3

p.M141I

c.423G>C

1 paper

NM_000251.3

p.A143P

c.427G>C

2 papers

NM_000251.3

p.A143insFs

c.428_429insC

1 paper

NM_000251.3

p.A143fs

c.427_428fs

1 paper

NM_000251.3

p.S142_A143insFs

c.425_429dup5