Varaico: Literature-Extracted Genetic Variants

Gene:ARL14EP
Variant:p.E140*

ARL14EP

29 papers

RefSeq Summary

The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based mo...

Pfam Domains

ARF7EP_Caa 146–249UCSCARF7 effector protein C-terminus

Gene Aliases

HGNC Name

ARF like GTPase 14 effector protein

HGNC Previous Symbol

C11orf46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152316.3
p.E140*
c.418G>T
Surrounding Variants
1 paper
NM_152316.3
p.T131_E132insFs
c.393_394insT
1 paper
NM_152316.3
p.S126G
c.376A>G
1 paper
NM_152316.3
p.F105L
c.315T>A
1 paper
NM_152316.3
p.F105L
c.315T>G
1 paper
NM_152316.3
p.F105L
c.313T>C
1 paper
NM_152316.3
p.K104I
c.311A>T
1 paper
NM_152316.3
p.H91Y
c.271C>T
1 paper
NM_152316.3
p.N89fs
c.265_266fs
1 paper
NM_152316.3
p.K87fs
c.259_260fs
1 paper
NM_152316.3
p.I56F
c.166A>T
1 paper
NM_152316.3
p.S51F
c.152C>T
1 paper
NM_152316.3
p.G8insFs
c.22_23insAG
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