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.Q288fs

c.862_863fs

Surrounding Variants

2 papers

NM_000251.3

p.Q288fs

c.862_863fs

1 paper

NM_000251.3

p.Q288E

c.862C>G

23 papers

NM_000251.3

p.Q288*

c.862C>T

4 papers

NM_000251.3

p.Q288delFs

c.863delA

1 paper

NM_000251.3

p.G287G

c.861A>G

1 paper

NM_000251.3

p.Q288delFs

c.864delG

1 paper

NM_000251.3

p.Q288_F289delFs

c.864_865delGT

1 paper

NM_000251.3

p.G287E

c.860G>A

2 papers

NM_000251.3

p.G287A

c.860G>C

1 paper

NM_000251.3

p.Q288H

c.864G>C

2 papers

NM_000251.3

p.F289insFs

c.866_867dupTT

1 paper

NM_000251.3

p.G287V

c.860G>T