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.P125R

c.374C>G

Surrounding Variants

1 paper

NM_000251.3

p.P125H

c.374C>A

5 papers

NM_000251.3

p.P125L

c.374C>T

1 paper

NM_000251.3

p.P125_L128Fs

c.374_382delinsTFs

1 paper

NM_000251.3

p.P125T

c.373C>A

1 paper

NM_000251.3

p.P125_G126insT

c.373_377ins3

4 papers

NM_000251.3

p.P125S

c.373C>T

1 paper

NM_000251.3

p.P125_G126ins1

c.375_376insGTC

4 papers

NM_000251.3

p.G126delFs

c.376delG

4 papers

NM_000251.3

p.G126S

c.376G>A

2 papers

NM_000251.3

p.G126fs

c.376_377fs

1 paper

NM_000251.3

p.G126C

c.376G>T

1 paper

NM_000251.3

p.G126delFs

c.377_378delGC