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.D167V

c.500A>T

Surrounding Variants

2 papers

NM_000251.3

p.D167N

c.499G>A

34 papers

NM_000251.3

p.D167H

c.499G>C

1 paper

NM_000251.3

p.D167insFs

c.500_501insA

2 papers

NM_000251.3

p.D167_S168insGA

c.499_503ins6

1 paper

NM_000251.3

p.D167D

c.501T>C

1 paper

NM_000251.3

p.D167_S168insFs

c.501_502insA

1 paper

NM_000251.3

p.S168delFs

c.502_503delTC

1 paper

NM_000251.3

p.S168P

c.502T>C

1 paper

NM_000251.3

p.S168insFs

c.503dupC

1 paper

NM_000251.3

p.S168delFs

c.503delC

1 paper

NM_000251.3

p.S168Y

c.503C>A

2 papers

NM_000251.3

p.S168F

c.503C>T