Varaico: Literature-Extracted Genetic Variants

Gene:ARL6
Variant:p.Q73L

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
11 papers
NM_001278293.3
p.Q73L
c.218A>T
Surrounding Variants
1 paper
NM_001278293.3
p.G72D
c.215G>A
1 paper
NM_001278293.3
p.G74E
c.221G>A
2 papers
NM_001278293.3
p.G72R
c.214G>C
1 paper
NM_001278293.3
p.Y76*
c.228C>A
1 paper
NM_001278293.3
p.Y76*
c.228C>G
1 paper
NM_001278293.3
p.S62R
c.186T>A
1 paper
NM_001278293.3
p.Y84D
c.250T>G
2 papers
NM_001278293.3
p.S62Splc
c.186-2A>G
3 papers
NM_001278293.3
p.S62Splc
c.185+1G>A
1 paper
NM_001278293.3
p.K59delFs
c.177delA
1 paper
NM_001278293.3
p.N46T
c.137A>C
1 paper
NM_001278293.3
p.N46_L48del3
c.136_143del9
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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."