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.L9Q

c.26T>A

Surrounding Variants

2 papers

NM_000251.3

p.L9R

c.26T>G

1 paper

NM_000251.3

p.L9fs

c.25_26fs

1 paper

NM_000251.3

p.L9insFs

c.26dupT

1 paper

NM_000251.3

p.L9insFs

c.26_27dupTG

2 papers

NM_000251.3

p.L9V

c.25C>G

2 papers

NM_000251.3

p.L9L

c.25C>T

1 paper

NM_000251.3

p.L9delFs

c.26delT

1 paper

NM_000251.3

p.L9delins

c.25_26delinsTA

1 paper

NM_000251.3

p.L9_E12del0

c.26_34del9

2 papers

NM_000251.3

p.L9L

c.27G>A

1 paper

NM_000251.3

p.L9L

c.27G>C

1 paper

NM_000251.3

p.L9_Q10insFs

c.27_28ins17