Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP1
Variant:p.S169P

CDC42EP1

61 papers

RefSeq Summary

CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin ...

Pfam Domains

PBDaa 37–67UCSCP21-Rho-binding domain
BORG_CEPaa 115–217UCSCCdc42 effector

Gene Aliases

HGNC Name

CDC42 effector protein 1

HGNC Alias Symbols

MSE55; Borg5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152243.3
p.S169P
c.505T>C
Surrounding Variants
2 papers
NM_152243.3
p.R168H
c.503G>A
1 paper
NM_152243.3
p.P167L
c.500C>T
2 papers
NM_152243.3
p.S180A
c.538T>G
1 paper
NM_152243.3
p.P182ins1
c.545_546insGGT
1 paper
NM_152243.3
p.E184K
c.550G>A
1 paper
NM_152243.3
p.L216L
c.648C>G
1 paper
NM_152243.3
p.P217S
c.649C>T
1 paper
NM_152243.3
p.A226delFs
c.676delG
1 paper
NM_152243.3
p.A226fs
c.676_677fs
1 paper
NM_152243.3
p.T235A
c.703A>G
1 paper
NM_152243.3
p.G240C
c.718G>T
1 paper
NM_152243.3
p.A247T
c.739G>A
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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."