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.T292_K301del10

c.874_902del30

Surrounding Variants

2 papers

NM_000251.3

p.T292delFs

c.874_875delAC

2 papers

NM_000251.3

p.T292fs

c.874_875fs

2 papers

NM_000251.3

p.T292A

c.874A>G

3 papers

NM_000251.3

p.T292S

c.874A>T

2 papers

NM_000251.3

p.T292fs

c.874_875fs

1 paper

NM_000251.3

p.L291delFs

c.873delG

1 paper

NM_000251.3

p.L291_T292delFs

c.873_874delGA

2 papers

NM_000251.3

p.L291fs

c.871_872fs

3 papers

NM_000251.3

p.T292insFs

c.876dupT

5 papers

NM_000251.3

p.T292S

c.875C>G

1 paper

NM_000251.3

p.L291V

c.871C>G

1 paper

NM_000251.3

p.T292I

c.875C>T