Varaico: Literature-Extracted Genetic Variants

Gene:ARL14EP

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
1–12 of 27 variants
4 papers
NM_152316.3
p.R236H
c.707G>A
3 papers
NM_152316.3
p.G218E
c.653G>A
2 papers
NM_152316.3
p.A146V
c.437C>T
1 paper
NM_152316.3
p.M1I
c.3G>C
1 paper
NM_152316.3
p.V7F
c.19G>T
1 paper
NM_152316.3
p.G8insFs
c.22_23insAG
1 paper
NM_152316.3
p.S51F
c.152C>T
1 paper
NM_152316.3
p.I56F
c.166A>T
1 paper
NM_152316.3
p.K87fs
c.259_260fs
1 paper
NM_152316.3
p.N89fs
c.265_266fs
1 paper
NM_152316.3
p.H91Y
c.271C>T
1 paper
NM_152316.3
p.K104I
c.311A>T
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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."