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

11 papers

NM_000251.3

p.V923E

c.2768T>A

Surrounding Variants

1 paper

NM_000251.3

p.V923A

c.2768T>C

1 paper

NM_000251.3

p.N924insFs

c.2771dupA

1 paper

NM_000251.3

p.N924delFs

c.2771delA

3 papers

NM_000251.3

p.V923I

c.2767G>A

2 papers

NM_000251.3

p.V923_N924insC

c.2767_2771ins3

1 paper

NM_000251.3

p.V923insFs

c.2768dupT

2 papers

NM_000251.3

p.N924fs

c.2770_2771fs

5 papers

NM_000251.3

p.F922F

c.2766T>C

1 paper

NM_000251.3

p.N924_E925delFs

c.2772_2773delTG

1 paper

NM_000251.3

p.V923_N924del2

c.2767_2771del6

1 paper

NM_000251.3

p.S921R

c.2763C>A

1 paper

NM_000251.3

p.S921R

c.2763C>G