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.I584fs

c.1750_1751fs

Surrounding Variants

1 paper

NM_000251.3

p.S585insFs

c.1753dupT

4 papers

NM_000251.3

p.S585delFs

c.1753delT

1 paper

NM_000251.3

p.I584insFs

c.1750dupA

1 paper

NM_000251.3

p.I584Fs

c.1751_1752delinsAFs

3 papers

NM_000251.3

p.N583insFs

c.1749dupT

1 paper

NM_000251.3

p.N583T

c.1748A>C

18 papers

NM_000251.3

p.N583S

c.1748A>G

4 papers

NM_000251.3

p.N583I

c.1748A>T

2 papers

NM_000251.3

p.N583delFs

c.1749delT

1 paper

NM_000251.3

p.I584I

c.1752T>A

1 paper

NM_000251.3

p.S585delFs

c.1753_1754delTC

2 papers

NM_000251.3

p.N583fs

c.1747_1748fs