Varaico: Literature-Extracted Genetic Variants

DIAPH2

145 papers

RefSeq Summary

The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this...

Pfam Domains

Drf_GBDaa 98–284UCSCDiaphanous GTPase-binding Domain

Drf_FH3aa 287–476UCSCDiaphanous FH3 Domain

FH2aa 628–1003UCSCFormin Homology 2 Domain

Gene Aliases

HGNC Name

diaphanous related formin 2

HGNC Alias Symbols

DIA; POF2; DIA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006729.5

p.Q164E

c.490C>G

Surrounding Variants

1 paper

NM_006729.5

p.N154K

c.462C>A

1 paper

NM_006729.5

p.G151A

c.452G>C

1 paper

NM_006729.5

p.K178N

c.534A>C

1 paper

NM_006729.5

p.K178N

c.534A>T

1 paper

NM_006729.5

p.N181S

c.542A>G

2 papers

NM_006729.5

p.E184K

c.550G>A

1 paper

NM_006729.5

p.E184Q

c.550G>C