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

7 papers

NM_000251.3

p.M729I

c.2187G>A

Surrounding Variants

7 papers

NM_000251.3

p.M729I

c.2187G>C

7 papers

NM_000251.3

p.M729I

c.2187G>T

1 paper

NM_000251.3

p.M729_L730ins4

c.2185_2189ins12

2 papers

NM_000251.3

p.M729L

c.2185A>C

1 paper

NM_000251.3

p.M729V

c.2185A>G

2 papers

NM_000251.3

p.M729L

c.2185A>T

3 papers

NM_000251.3

p.M729fs

c.2185_2186fs

1 paper

NM_000251.3

p.M729_E731delins

c.2185_2192delinsCCCTA

6 papers

NM_000251.3

p.M729_E731Fs

c.2185_2192delinsCCCTFs

1 paper

NM_000251.3

p.L730delFs

c.2190delG

2 papers

NM_000251.3

p.E731_S734del4

c.2191_2201del12

3 papers

NM_000251.3

p.E728_M729ins0

c.2184_2186dupAAT