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

44 papers

NM_000251.3

p.C697R

c.2089T>C

Surrounding Variants

4 papers

NM_000251.3

p.C697G

c.2089T>G

1 paper

NM_000251.3

p.C697insFs

c.2089dupT

2 papers

NM_000251.3

p.P696P

c.2088A>C

2 papers

NM_000251.3

p.C697delFs

c.2089delT

1 paper

NM_000251.3

p.C697_E698delFs

c.2091_2092delTG

2 papers

NM_000251.3

p.C697_E698del2

c.2089_2093del6

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.C697insFs

c.2091dupT

40 papers

NM_000251.3

p.C697F

c.2090G>T

28 papers

NM_000251.3

p.P696L

c.2087C>T

6 papers

NM_000251.3

p.C697*

c.2091T>A