Varaico: Literature-Extracted Genetic Variants

Gene:CDC42EP1
Variant:p.G240C

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.G240C
c.718G>T
Surrounding Variants
1 paper
NM_152243.3
p.T235A
c.703A>G
1 paper
NM_152243.3
p.A247T
c.739G>A
1 paper
NM_152243.3
p.T248P
c.742A>C
1 paper
NM_152243.3
p.T249A
c.745A>G
1 paper
NM_152243.3
p.P253delFs
c.757delC
7 papers
NM_152243.3
p.P253_S260del8
c.757_779del24
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
1 paper
NM_152243.3
p.A226fs
c.676_677fs
1 paper
NM_152243.3
p.A226delFs
c.676delG
1 paper
NM_152243.3
p.A254A
c.762G>A
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