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.F600S

c.1799T>C

Surrounding Variants

1 paper

NM_006729.5

p.G601E

c.1802G>A

1 paper

NM_006729.5

p.P604P

c.1812T>C

1 paper

NM_006729.5

p.G611E

c.1832G>A

1 paper

NM_006729.5

p.L584F

c.1752A>C

1 paper

NM_006729.5

p.L584F

c.1752A>T

1 paper

NM_006729.5

p.G573E

c.1718G>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

1 paper

NM_006729.5

p.A568T

c.1702G>A

1 paper

NM_006729.5

p.P567L

c.1700C>T

1 paper

NM_006729.5

p.P634S

c.1900C>T