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.K65K

c.195G>A

Surrounding Variants

1 paper

NM_000251.3

p.K65Fs

c.195delinsATCTTFs

1 paper

NM_000251.3

p.Y66delFs

c.196delT

1 paper

NM_000251.3

p.K65insFs

c.194_195insAT

1 paper

NM_000251.3

p.K65R

c.194A>G

2 papers

NM_000251.3

p.K65delFs

c.195delG

2 papers

NM_000251.3

p.K65_G71delFs

c.195_211del17

1 paper

NM_000251.3

p.Y66insFs

c.196_197insG

3 papers

NM_000251.3

p.Y66fs

c.196_197fs

1 paper

NM_000251.3

p.Y66insFs

c.198dupC

1 paper

NM_000251.3

p.K65fs

c.193_194fs

2 papers

NM_000251.3

p.K65insFs

c.193_194insTC

1 paper

NM_000251.3

p.Y66S

c.197A>C