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

2 papers

NM_006729.5

p.A83T

c.247G>A

Surrounding Variants

1 paper

NM_006729.5

p.Q81P

c.242A>C

1 paper

NM_006729.5

p.P88L

c.263C>T

1 paper

NM_006729.5

p.P72S

c.214C>T

1 paper

NM_006729.5

p.K64Q

c.190A>C

1 paper

NM_006729.5

p.L109V

c.325C>G

1 paper

NM_006729.5

p.L109R

c.326T>G

1 paper

NM_006729.5

p.R56fs

c.166_167fs

1 paper

NM_006729.5

p.E111fs

c.331_332fs

1 paper

NM_006729.5

p.T50S

c.149C>G

1 paper

NM_006729.5

p.T50S

c.148A>T

1 paper

NM_006729.5

p.Q47*

c.139C>T