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.A143delFs

c.428_429delCT

Surrounding Variants

2 papers

NM_000251.3

p.A143T

c.427G>A

1 paper

NM_000251.3

p.A143P

c.427G>C

2 papers

NM_000251.3

p.A143insFs

c.428_429insC

1 paper

NM_000251.3

p.A143fs

c.427_428fs

2 papers

NM_000251.3

p.A143S

c.427G>T

2 papers

NM_000251.3

p.A143insFs

c.427_428insG

1 paper

NM_000251.3

p.A143G

c.428C>G

1 paper

NM_000251.3

p.A143V

c.428C>T

1 paper

NM_000251.3

p.S144delFs

c.430delT

7 papers

NM_000251.3

p.S142*

c.425C>A

8 papers

NM_000251.3

p.S142*

c.425C>G

1 paper

NM_000251.3

p.S142L

c.425C>T