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.F136L

c.406T>C

Surrounding Variants

3 papers

NM_000251.3

p.F136fs

c.406_407fs

3 papers

NM_000251.3

p.F136fs

c.406_407fs

1 paper

NM_000251.3

p.L135_F136insFs

c.405_406insA

7 papers

NM_000251.3

p.F136delFs

c.408delT

1 paper

NM_000251.3

p.F136S

c.407T>C

1 paper

NM_000251.3

p.F136C

c.407T>G

1 paper

NM_000251.3

p.F136L

c.408T>A

1 paper

NM_000251.3

p.F136L

c.408T>G

1 paper

NM_000251.3

p.G137_N138del2

c.409_413del6

1 paper

NM_000251.3

p.L135I

c.403C>A

1 paper

NM_000251.3

p.L135insFs

c.404dupT

4 papers

NM_000251.3

p.L135V

c.403C>G