Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP4
Variant:p.K145T

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.K145T
c.434A>C
Surrounding Variants
1 paper
NM_012121.5
p.A127A
c.381C>T
1 paper
NM_012121.5
p.R166Q
c.497G>A
1 paper
NM_012121.5
p.P120L
c.359C>T
1 paper
NM_012121.5
p.S118F
c.353C>T
1 paper
NM_012121.5
p.M102V
c.304A>G
1 paper
NM_012121.5
p.E98fs
c.292_293fs
1 paper
NM_012121.5
p.T93I
c.278C>T
1 paper
NM_012121.5
p.T197T
c.591G>A
1 paper
NM_012121.5
p.Y198Y
c.594C>T
1 paper
NM_012121.5
p.G199A
c.596G>C
1 paper
NM_012121.5
p.R84L
c.251G>T
1 paper
NM_012121.5
p.R76C
c.226C>T
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