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

5 papers

NM_000251.3

p.K661_Q662delFs

c.1982_1985del4

Surrounding Variants

1 paper

NM_000251.3

p.D660E

c.1980T>A

1 paper

NM_000251.3

p.D660E

c.1980T>G

1 paper

NM_000251.3

p.K661insFs

c.1983dupA

2 papers

NM_000251.3

p.K661delFs

c.1983delA

3 papers

NM_000251.3

p.K661fs

c.1981_1982fs

12 papers

NM_000251.3

p.D660G

c.1979A>G

2 papers

NM_000251.3

p.K661*

c.1981A>T

2 papers

NM_000251.3

p.K661fs

c.1981_1982fs

1 paper

NM_000251.3

p.K661T

c.1982A>C

3 papers

NM_000251.3

p.Q662delFs

c.1984_1985delCA

4 papers

NM_000251.3

p.D660fs

c.1978_1979fs

7 papers

NM_000251.3

p.D660_K661delFs

c.1980_1981delTA