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.E626del1

c.1876_1877delGAG

Surrounding Variants

1 paper

NM_000251.3

p.L625*

c.1874T>A

1 paper

NM_000251.3

p.L625_E626Fs

c.1874_1877delinsAGGFs

1 paper

NM_000251.3

p.E626_G628delFs

c.1877_1883del7

1 paper

NM_000251.3

p.L625L

c.1875G>A

1 paper

NM_000251.3

p.L625F

c.1875G>C

1 paper

NM_000251.3

p.L625F

c.1875G>T

4 papers

NM_000251.3

p.L625V

c.1873T>G

1 paper

NM_000251.3

p.L625_E626insG

c.1873_1877ins3

1 paper

NM_000251.3

p.E626K

c.1876G>A

1 paper

NM_000251.3

p.E626Q

c.1876G>C

1 paper

NM_000251.3

p.E626*

c.1876G>T

1 paper

NM_000251.3

p.E626delFs

c.1877delA