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.E590_P591Fs

c.1770_1772delinsCFs

Surrounding Variants

1 paper

NM_000251.3

p.P591delFs

c.1772delC

3 papers

NM_000251.3

p.E590fs

c.1768_1769fs

2 papers

NM_000251.3

p.E590delFs

c.1770delA

1 paper

NM_000251.3

p.E590fs

c.1768_1769fs

1 paper

NM_000251.3

p.E590delFs

c.1768delG

4 papers

NM_000251.3

p.P591insFs

c.1771_1772insA

2 papers

NM_000251.3

p.P591fs

c.1771_1772fs

1 paper

NM_000251.3

p.P591A

c.1771C>G

4 papers

NM_000251.3

p.P591S

c.1771C>T

3 papers

NM_000251.3

p.P591fs

c.1771_1772fs

1 paper

NM_000251.3

p.P591_M592delFs

c.1772_1775del4

2 papers

NM_000251.3

p.P591Q

c.1772C>A