Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH2
Variant:p.R1083delFs

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.R1083delFs
c.3248delG
Surrounding Variants
1 paper
NM_006729.5
p.R1083fs
c.3247_3248fs
2 papers
NM_006729.5
p.R1091H
c.3272G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."