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

2 papers

NM_000251.3

p.E698delFs

c.2092_2093delGA

Surrounding Variants

6 papers

NM_000251.3

p.C697*

c.2091T>A

1 paper

NM_000251.3

p.C697W

c.2091T>G

1 paper

NM_000251.3

p.E698insFs

c.2092dupG

2 papers

NM_000251.3

p.E698delFs

c.2092delG

1 paper

NM_001258281.1

p.E632_S633delFs

c.1894_1898del5

1 paper

NM_000251.3

p.E698_E701delFs

c.2092_2102del11

1 paper

NM_000251.3

p.E698_G713del16

c.2092_2138del48

14 papers

NM_000251.3

p.C697Y

c.2090G>A

1 paper

NM_000251.3

p.C697S

c.2090G>C

1 paper

NM_000251.3

p.E698fs

c.2092_2093fs

1 paper

NM_000251.3

p.C697insFs

c.2091dupT

40 papers

NM_000251.3

p.C697F

c.2090G>T