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

7 papers

NM_000251.3

p.Q574*

c.1720C>T

Surrounding Variants

3 papers

NM_000251.3

p.Q574fs

c.1720_1721fs

2 papers

NM_000251.3

p.Q574delFs

c.1721delA

1 paper

NM_000251.3

p.Q574fs

c.1720_1721fs

3 papers

NM_000251.3

p.Q574P

c.1721A>C

1 paper

NM_000251.3

p.Q574_D575del2

c.1720_1724del6

3 papers

NM_000251.3

p.A573T

c.1717G>A

3 papers

NM_000251.3

p.A573fs

c.1717_1718fs

1 paper

NM_000251.3

p.A573S

c.1717G>T

6 papers

NM_000251.3

p.Q574delFs

c.1720delC

2 papers

NM_000251.3

p.A573fs

c.1717_1718fs

1 paper

NM_000251.3

p.D575insFs

c.1725dupT

4 papers

NM_000251.3

p.D575G

c.1724A>G