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

13 papers

NM_000251.3

p.G164E

c.491G>A

Surrounding Variants

2 papers

NM_000251.3

p.G164_Y165delFs

c.492_493delGT

25 papers

NM_000251.3

p.G164R

c.490G>A

26 papers

NM_000251.3

p.G164R

c.490G>C

5 papers

NM_000251.3

p.G164W

c.490G>T

1 paper

NM_000251.3

p.Y165delFs

c.493delT

15 papers

NM_000251.3

p.Y165D

c.493T>G

1 paper

NM_000251.3

p.Y165insFs

c.493_494insG

1 paper

NM_000251.3

p.Y165fs

c.493_494fs

2 papers

NM_000251.3

p.Y165fs

c.493_494fs

1 paper

NM_000251.3

p.G164delFs

c.492delG

1 paper

NM_000251.3

p.G164_Q170delFs

c.490_508del19

1 paper

NM_000251.3

p.G164_E177del14

c.490_530del42