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.E562E

c.1686G>A

Surrounding Variants

1 paper

NM_000251.3

p.E562D

c.1686G>C

4 papers

NM_000251.3

p.Y563insFs

c.1687_1688insT

1 paper

NM_000251.3

p.E562D

c.1686G>T

1 paper

NM_000251.3

p.Y563delFs

c.1688_1689delAT

1 paper

NM_000251.3

p.Y563_K565delFs

c.1687_1693del7

5 papers

NM_000251.3

p.E562V

c.1685A>T

1 paper

NM_000251.3

p.Y563N

c.1687T>A

3 papers

NM_000251.3

p.Y563H

c.1687T>C

2 papers

NM_000251.3

p.Y563fs

c.1687_1688fs

1 paper

NM_000251.3

p.Y563fs

c.1687_1688fs

1 paper

NM_000251.3

p.Y563insFs

c.1689dupT

3 papers

NM_000251.3

p.Y563S

c.1688A>C