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

26 papers

NM_000251.3

p.V161D

c.482T>A

Surrounding Variants

5 papers

NM_000251.3

p.V161A

c.482T>C

3 papers

NM_000251.3

p.V161I

c.481G>A

1 paper

NM_000251.3

p.V161L

c.481G>C

1 paper

NM_000251.3

p.V161_G162ins5

c.481_485ins15

2 papers

NM_000251.3

p.V161F

c.481G>T

1 paper

NM_000251.3

p.V161_G162insFs

c.483_484insA

1 paper

NM_000251.3

p.G162delFs

c.485delG

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.Q160H

c.480G>C

1 paper

NM_000251.3

p.G162_V163ins4

c.484_488ins12

1 paper

NM_000251.3

p.Q160H

c.480G>T