Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP1

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
1–12 of 48 variants
10 papers
NM_152243.3
p.S260P
c.778T>C
7 papers
NM_152243.3
p.K85_Q87delFs
c.253_260del8
7 papers
NM_152243.3
p.P253_S260del8
c.757_779del24
7 papers
NM_152243.3
p.A254_A261del0
c.762_782del21
6 papers
NM_152243.3
p.A256T
c.766G>A
3 papers
NM_152243.3
p.P255T
c.763C>A
2 papers
NM_152243.3
p.R168H
c.503G>A
2 papers
NM_152243.3
p.S180A
c.538T>G
2 papers
NM_152243.3
p.A277T
c.829G>A
1 paper
NM_152243.3
p.M1K
c.2T>A
1 paper
NM_152243.3
p.T12I
c.35C>T
1 paper
NM_152243.3
p.S14N
c.41G>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."