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.G573R

c.1717G>A

Surrounding Variants

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.G573E

c.1718G>A

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.P564L

c.1691C>T

1 paper

NM_006729.5

p.P563insFs

c.1688_1689insA

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.P551T

c.1651C>A

1 paper

NM_006729.5

p.F600S

c.1799T>C

1 paper

NM_006729.5

p.S545T

c.1633T>A