Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP1
Variant:p.A256A

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.A256A
c.768T>C
Surrounding Variants
6 papers
NM_152243.3
p.A256T
c.766G>A
3 papers
NM_152243.3
p.P255T
c.763C>A
1 paper
NM_152243.3
p.A254A
c.762G>A
10 papers
NM_152243.3
p.S260P
c.778T>C
1 paper
NM_152243.3
p.P253fs
c.757_758fs
7 papers
NM_152243.3
p.A254_A261del0
c.762_782del21
1 paper
NM_152243.3
p.A254_A261del8
c.760_782del24
7 papers
NM_152243.3
p.P253_S260del8
c.757_779del24
1 paper
NM_152243.3
p.P253delFs
c.757delC
1 paper
NM_152243.3
p.T249A
c.745A>G
1 paper
NM_152243.3
p.T248P
c.742A>C
1 paper
NM_152243.3
p.A247T
c.739G>A
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