Varaico: Literature-Extracted Genetic Variants

Gene:ARL6
Variant:p.D117Splc

ARL6

158 papers

RefSeq Summary

The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. ...

Pfam Domains

Arfaa 4–181UCSCADP-ribosylation factor family

Gene Aliases

HGNC Name

ARF like GTPase 6

HGNC Previous Symbol

BBS3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001278293.3
p.D117Splc
c.350-1G>C
Surrounding Variants
1 paper
NM_001278293.3
p.D117Splc
c.350-2A>C
1 paper
NM_001278293.3
p.R121C
c.361C>T
12 papers
NM_001278293.3
p.R121H
c.362G>A
10 papers
NM_001278293.3
p.R122*
c.364C>T
2 papers
NM_001278293.3
p.R122Q
c.365G>A
1 paper
NM_001278293.3
p.I123V
c.367A>G
1 paper
NM_001278293.3
p.P124S
c.370C>T
1 paper
NM_001278293.3
p.I125insFs
c.373dupA
1 paper
NM_001278293.3
p.I125fs
c.373_374fs
1 paper
NM_001278293.3
p.L126*
c.377T>G
2 papers
NM_001278293.3
p.A129_M132delFs
c.387_394del8
1 paper
NM_001278293.3
p.L134delFs
c.402delT
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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."