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

3 papers

NM_000251.3

p.E198*

c.592G>T

Surrounding Variants

2 papers

NM_000251.3

p.E198K

c.592G>A

2 papers

NM_000251.3

p.E198insFs

c.593dupA

3 papers

NM_000251.3

p.E198fs

c.592_593fs

1 paper

NM_000251.3

p.E198insFs

c.592_593insT

1 paper

NM_000251.3

p.E198fs

c.592_593fs

22 papers

NM_000251.3

p.E198G

c.593A>G

6 papers

NM_000251.3

p.E198insFs

c.592dupG

1 paper

NM_000251.3

p.E198_C199insFs

c.594_595ins13

1 paper

NM_000251.3

p.K197T

c.590A>C

1 paper

NM_000251.3

p.E198D

c.594A>C

1 paper

NM_000251.3

p.K197R

c.590A>G

1 paper

NM_000251.3

p.E198E

c.594A>G