Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP4
Variant:p.D226E

CDC42EP4

26 papers

RefSeq Summary

The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein ...

Pfam Domains

PBDaa 26–85UCSCP21-Rho-binding domain
BORG_CEPaa 112–228UCSCCdc42 effector

Gene Aliases

HGNC Name

CDC42 effector protein 4

HGNC Alias Symbols

KAIA1777; BORG4; MGC3740; MGC17125

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012121.5
p.D226E
c.678C>G
Surrounding Variants
1 paper
NM_012121.5
p.D226E
c.678C>A
1 paper
NM_012121.5
p.S223N
c.668G>A
1 paper
NM_012121.5
p.E236delFs
c.706delC
1 paper
NM_012121.5
p.E236fs
c.706_707fs
1 paper
NM_012121.5
p.D242H
c.724G>C
1 paper
NM_012121.5
p.G199A
c.596G>C
1 paper
NM_012121.5
p.Y198Y
c.594C>T
1 paper
NM_012121.5
p.T197T
c.591G>A
1 paper
NM_012121.5
p.W286*
c.857G>A
1 paper
NM_012121.5
p.W286*
c.858G>A
1 paper
NM_012121.5
p.W286delins
c.857_858delinsAA
1 paper
NM_012121.5
p.R166Q
c.497G>A
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