Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP5
Variant:p.P130H

CDC42EP5

18 papers

RefSeq Summary

Cell division control protein 42 (CDC42), a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encode...

Pfam Domains

BORG_CEPaa 10–110UCSCCdc42 effector
PBDaa 22–52UCSCP21-Rho-binding domain

Gene Aliases

HGNC Name

CDC42 effector protein 5

HGNC Alias Symbol

Borg3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145057.4
p.P130H
c.389C>A
Surrounding Variants
2 papers
NM_145057.4
p.P129L
c.386C>T
1 paper
NM_145057.4
p.P130insFs
c.390dupC
1 paper
NM_145057.4
p.P112Q
c.335C>A
1 paper
NM_145057.4
p.P97S
c.289C>T
2 papers
NM_145057.4
p.P77L
c.230C>T
1 paper
NM_145057.4
p.A65fs
c.193_194fs
1 paper
NM_145057.4
p.G40D
c.119G>A
1 paper
NM_145057.4
p.T33A
c.97A>G
1 paper
NM_145057.4
p.S24A
c.70T>G
1 paper
NM_145057.4
p.G8D
c.23G>A
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