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

5 papers

NM_000251.3

p.Q314fs

c.940_941fs

Surrounding Variants

1 paper

NM_000251.3

p.Q314K

c.940C>A

4 papers

NM_000251.3

p.Q314fs

c.940_941fs

13 papers

NM_000251.3

p.Q314*

c.940C>T

1 paper

NM_000251.3

p.Q314delFs

c.941delA

1 paper

NM_000251.3

p.Q314delFs

c.942delG

2 papers

NM_000251.3

p.F313L

c.939T>A

2 papers

NM_000251.3

p.F313L

c.939T>G

1 paper

NM_000251.3

p.Q314delFs

c.940delC

3 papers

NM_000251.3

p.Q314del1

c.940_941delCAG

15 papers

NM_000251.3

p.Q314Q

c.942G>A

5 papers

NM_000251.3

p.Q314H

c.942G>C

7 papers

NM_000251.3

p.Q314H

c.942G>T