Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP1
Variant:p.G72R

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.G72R
c.214G>C
Surrounding Variants
1 paper
NM_152243.3
p.G72R
c.214G>A
1 paper
NM_152243.3
p.L82M
c.244C>A
1 paper
NM_152243.3
p.T61M
c.182C>T
7 papers
NM_152243.3
p.K85_Q87delFs
c.253_260del8
1 paper
NM_152243.3
p.K85_Q87delFs
c.254_261del8
1 paper
NM_152243.3
p.F58F
c.174C>T
1 paper
NM_152243.3
p.V51A
c.152T>C
1 paper
NM_152243.3
p.P95fs
c.283_284fs
1 paper
NM_152243.3
p.R97Q
c.290G>A
1 paper
NM_152243.3
p.R32Q
c.95G>A
1 paper
NM_152243.3
p.P123delFs
c.367delC
1 paper
NM_152243.3
p.P123fs
c.367_368fs
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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."