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

2 papers

NM_000251.3

p.D180_P196delFs

c.538_586del49

Surrounding Variants

1 paper

NM_000251.3

p.P179P

c.537T>A

1 paper

NM_000251.3

p.P179_D180insFs

c.537_538insC

1 paper

NM_000251.3

p.D180delFs

c.538delG

1 paper

NM_000251.3

p.P179insFs

c.537dupT

1 paper

NM_000251.3

p.P179R

c.536C>G

2 papers

NM_000251.3

p.P179L

c.536C>T

2 papers

NM_000251.3

p.D180N

c.538G>A

1 paper

NM_000251.3

p.D180fs

c.538_539fs

1 paper

NM_000251.3

p.D180A

c.539A>C

1 paper

NM_000251.3

p.D180G

c.539A>G

3 papers

NM_000251.3

p.D180V

c.539A>T

1 paper

NM_000251.3

p.D180delFs

c.540delT