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

2 papers

NM_000251.3

p.E290fs

c.868_869fs

Surrounding Variants

1 paper

NM_000251.3

p.E290Q

c.868G>C

1 paper

NM_000251.3

p.E290insFs

c.870dupA

1 paper

NM_000251.3

p.E290fs

c.868_869fs

10 papers

NM_000251.3

p.E290*

c.868G>T

2 papers

NM_000251.3

p.E290delFs

c.869delA

1 paper

NM_000251.3

p.E290_L291delFs

c.869_872del4

1 paper

NM_000251.3

p.E290V

c.869A>T

6 papers

NM_000251.3

p.L291_T292delFs

c.873_876del4

1 paper

NM_000251.3

p.F289L

c.867T>A

1 paper

NM_000251.3

p.F289F

c.867T>C

1 paper

NM_000251.3

p.F289L

c.867T>G

1 paper

NM_000251.3

p.E290delFs

c.868delG