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.G162G

c.486A>G

Surrounding Variants

1 paper

NM_000251.3

p.V163_L175del13

c.487_524del39

2 papers

NM_000251.3

p.G162A

c.485G>C

1 paper

NM_000251.3

p.V163L

c.487G>C

2 papers

NM_000251.3

p.G162V

c.485G>T

1 paper

NM_000251.3

p.V163delFs

c.488delT

36 papers

NM_000251.3

p.G162R

c.484G>A

33 papers

NM_000251.3

p.G162R

c.484G>C

1 paper

NM_000251.3

p.G162_V163ins4

c.484_488ins12

1 paper

NM_000251.3

p.G162fs

c.484_485fs

17 papers

NM_000251.3

p.V163D

c.488T>A

4 papers

NM_000251.3

p.V163A

c.488T>C

16 papers

NM_000251.3

p.V163G

c.488T>G