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.D156H

c.466G>C

Surrounding Variants

2 papers

NM_000251.3

p.D156N

c.466G>A

1 paper

NM_000251.3

p.D156fs

c.466_467fs

1 paper

NM_000251.3

p.D156_G157insN

c.466_470ins3

1 paper

NM_000251.3

p.D156Y

c.466G>T

1 paper

NM_000251.3

p.D156fs

c.466_467fs

1 paper

NM_000251.3

p.D156V

c.467A>T

1 paper

NM_000251.3

p.D156_G157delFs

c.468_469delTG

1 paper

NM_000251.3

p.D156_G157delFs

c.468_471del4

2 papers

NM_000251.3

p.V155_D156Fs

c.465_466delinsAFs

2 papers

NM_000251.3

p.D156delFs

c.466delG

2 papers

NM_000251.3

p.V155D

c.464T>A

1 paper

NM_000251.3

p.V155A

c.464T>C