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

1–12 of 159 variants

2 papers

NM_006729.5

p.G14V

c.41G>T

2 papers

NM_006729.5

p.A83T

c.247G>A

2 papers

NM_006729.5

p.E184K

c.550G>A

2 papers

NM_006729.5

p.G573R

c.1717G>A

2 papers

NM_006729.5

p.G573R

c.1717G>C

2 papers

NM_006729.5

p.G573*

c.1717G>T

2 papers

NM_006729.5

p.R1075W

c.3223C>T

2 papers

NM_006729.5

p.R1091H

c.3272G>A

1 paper

NM_006729.5

p.M1delFs

c.2delT

1 paper

NM_006729.5

p.G10E

c.29G>A

1 paper

NM_006729.5

p.E17E

c.51A>G

1 paper

NM_006729.5

p.G29A

c.86G>C