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

3 papers

NM_000251.3

p.F286fs

c.856_857fs

Surrounding Variants

1 paper

NM_000251.3

p.F286L

c.856T>C

1 paper

NM_000251.3

p.F286fs

c.856_857fs

1 paper

NM_000251.3

p.F286_Q288delFs

c.857_864del8

2 papers

NM_000251.3

p.N285K

c.855C>A

1 paper

NM_000251.3

p.F286insFs

c.856_857insT

2 papers

NM_000251.3

p.F286insFs

c.857_858dupTT

3 papers

NM_000251.3

p.N285K

c.855C>G

4 papers

NM_000251.3

p.F286delFs

c.858delT

3 papers

NM_000251.3

p.G287_E290del0

c.860_868del9

1 paper

NM_000251.3

p.F286S

c.857T>C

1 paper

NM_000251.3

p.N285T

c.854A>C

2 papers

NM_000251.3

p.N285S

c.854A>G