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.K565_N566delFs

c.1695_1698del4

Surrounding Variants

1 paper

NM_000251.3

p.K565N

c.1695A>C

4 papers

NM_000251.3

p.K565*

c.1693A>T

1 paper

NM_000251.3

p.K565N

c.1695A>T

1 paper

NM_000251.3

p.N566_E569del4

c.1696_1706del12

5 papers

NM_000251.3

p.N566fs

c.1696_1697fs

1 paper

NM_000251.3

p.N566H

c.1696A>C

1 paper

NM_000251.3

p.N566D

c.1696A>G

3 papers

NM_000251.3

p.N566Fs

c.1696_1697delinsGFs

8 papers

NM_000251.3

p.N566fs

c.1696_1697fs

3 papers

NM_000251.3

p.N566insFs

c.1697dupA

9 papers

NM_000251.3

p.N566delFs

c.1697delA

3 papers

NM_000251.3

p.N566delFs

c.1696_1697delAA