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

4 papers

NM_000251.3

p.A272T

c.814G>A

Surrounding Variants

1 paper

NM_000251.3

p.A272_K275insFs

c.815_824dup10

1 paper

NM_000251.3

p.A272S

c.814G>T

2 papers

NM_000251.3

p.A272G

c.815C>G

56 papers

NM_000251.3

p.A272V

c.815C>T

2 papers

NM_000251.3

p.V273delFs

c.817delG

3 papers

NM_000251.3

p.V273_K275del3

c.817_824del9

1 paper

NM_000251.3

p.S271S

c.813T>C

1 paper

NM_000251.3

p.S271Y

c.812C>A

5 papers

NM_000251.3

p.S271C

c.812C>G

4 papers

NM_000251.3

p.S271F

c.812C>T

3 papers

NM_000251.3

p.A272A

c.816G>A

4 papers

NM_000251.3

p.V273I

c.817G>A