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.I224F

c.670A>T

Surrounding Variants

1 paper

NM_000251.3

p.I224V

c.670A>G

2 papers

NM_000251.3

p.L223L

c.669G>A

3 papers

NM_000251.3

p.L223L

c.669G>C

1 paper

NM_000251.3

p.L223L

c.669G>T

1 paper

NM_000251.3

p.I224N

c.671T>A

1 paper

NM_000251.3

p.I224S

c.671T>G

1 paper

NM_000251.3

p.I224delFs

c.672delC

1 paper

NM_000251.3

p.T225insFs

c.673dupA

3 papers

NM_000251.3

p.I224M

c.672C>G

1 paper

NM_000251.3

p.T225_E226delFs

c.673_676del4

2 papers

NM_000251.3

p.L223P

c.668T>C

1 paper

NM_000251.3

p.T225A

c.673A>G