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.K567E

c.1699A>G

Surrounding Variants

4 papers

NM_000251.3

p.K567fs

c.1699_1700fs

6 papers

NM_000251.3

p.K567*

c.1699A>T

5 papers

NM_000251.3

p.K567fs

c.1699_1700fs

4 papers

NM_000251.3

p.N566K

c.1698T>A

3 papers

NM_000251.3

p.N566K

c.1698T>G

4 papers

NM_000251.3

p.T568insFs

c.1702dupA

10 papers

NM_000251.3

p.K567_T568delFs

c.1700_1704del5

1 paper

NM_000251.3

p.K567N

c.1701A>C

1 paper

NM_000251.3

p.N566S

c.1697A>G

1 paper

NM_000251.3

p.K567N

c.1701A>T

1 paper

NM_000251.3

p.N566delFs

c.1698delT

1 paper

NM_000251.3

p.N566_Y570delins

c.1697_1709delinsTTCT