Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP3
Variant:p.L159V

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
Selected Variant
1 paper
NM_006449.5
p.L159V
c.475C>G
Surrounding Variants
1 paper
NM_006449.5
p.G168R
c.502G>C
1 paper
NM_006449.5
p.G168R
c.502G>A
1 paper
NM_006449.5
p.S175I
c.524G>T
1 paper
NM_006449.5
p.G176R
c.526G>C
2 papers
NM_006449.5
p.G176S
c.526G>A
3 papers
NM_006449.5
p.G176D
c.527G>A
1 paper
NM_006449.5
p.T127A
c.379A>G
1 paper
NM_006449.5
p.M119L
c.355A>T
1 paper
NM_006449.5
p.M119L
c.355A>C
1 paper
NM_006449.5
p.A201V
c.602C>T
1 paper
NM_006449.5
p.P110Q
c.329C>A
1 paper
NM_006449.5
p.K215R
c.644A>G
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