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.D603insFs

c.1808dupA

Surrounding Variants

25 papers

NM_000251.3

p.D603N

c.1807G>A

2 papers

NM_000251.3

p.D603H

c.1807G>C

3 papers

NM_000251.3

p.D603fs

c.1807_1808fs

6 papers

NM_000251.3

p.D603Y

c.1807G>T

1 paper

NM_000251.3

p.D603fs

c.1807_1808fs

1 paper

NM_000251.3

p.D603insFs

c.1809dupT

1 paper

NM_000251.3

p.L602L

c.1806A>C

1 paper

NM_000251.3

p.D603A

c.1808A>C

13 papers

NM_000251.3

p.D603G

c.1808A>G

9 papers

NM_000251.3

p.D603V

c.1808A>T

1 paper

NM_000251.3

p.D603delFs

c.1807delG

7 papers

NM_000251.3

p.D603delFs

c.1809delT