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.T321S

c.962C>G

Surrounding Variants

3 papers

NM_000251.3

p.T321I

c.962C>T

1 paper

NM_000251.3

p.T321delFs

c.963delT

1 paper

NM_000251.3

p.T321fs

c.961_962fs

1 paper

NM_000251.3

p.T321P

c.961A>C

2 papers

NM_000251.3

p.T321A

c.961A>G

1 paper

NM_000251.3

p.T321S

c.961A>T

3 papers

NM_000251.3

p.T321fs

c.961_962fs

1 paper

NM_000251.3

p.G322_T335del14

c.964_1004del42

2 papers

NM_000251.3

p.G322S

c.964G>A

1 paper

NM_000251.3

p.T321insFs

c.961_962dupAC

1 paper

NM_000251.3

p.T320_G322insFs

c.960_964dup5

1 paper

NM_000251.3

p.T320S

c.959C>G