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.N138Y

c.412A>T

Surrounding Variants

1 paper

NM_000251.3

p.N138S

c.413A>G

1 paper

NM_000251.3

p.G137G

c.411T>G

1 paper

NM_000251.3

p.N138K

c.414C>A

1 paper

NM_000251.3

p.N138K

c.414C>G

8 papers

NM_000251.3

p.N139delFs

c.416delA

1 paper

NM_000251.3

p.N139_G146del8

c.415_437del24

1 paper

NM_000251.3

p.G137D

c.410G>A

1 paper

NM_000251.3

p.G137insFs

c.410_411insT

3 papers

NM_000251.3

p.N139fs

c.415_416fs

6 papers

NM_000251.3

p.N139fs

c.415_416fs

1 paper

NM_000251.3

p.D140del1

c.418_419delGAT

6 papers

NM_000251.3

p.G137R

c.409G>C