Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP3

CDC42EP3

34 papers

RefSeq Summary

This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act a...

Pfam Domains

PBDaa 30–86UCSCP21-Rho-binding domain
BORG_CEPaa 102–253UCSCCdc42 effector

Gene Aliases

HGNC Name

CDC42 effector protein 3

HGNC Alias Symbols

UB1; BORG2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
3 papers
NM_006449.5
p.G176D
c.527G>A
2 papers
NM_006449.5
p.G176S
c.526G>A
1 paper
NM_006449.5
p.N14S
c.41A>G
1 paper
NM_006449.5
p.K16R
c.47A>G
1 paper
NM_006449.5
p.F20L
c.58T>C
1 paper
NM_006449.5
p.F20L
c.60T>G
1 paper
NM_006449.5
p.F20L
c.60T>A
1 paper
NM_006449.5
p.Q49K
c.145C>A
1 paper
NM_006449.5
p.G54R
c.160G>C
1 paper
NM_006449.5
p.G54R
c.160G>A
1 paper
NM_006449.5
p.F85delFs
c.255delG
1 paper
NM_006449.5
p.S100P
c.298T>C
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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."