Varaico: Literature-Extracted Genetic Variants

Gene:ARL5B

ARL5B

18 papers

RefSeq Summary

ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supp...

Pfam Domains

Arfaa 1–176UCSCADP-ribosylation factor family

Gene Aliases

HGNC Name

ARF like GTPase 5B

HGNC Previous Symbol

ARL8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
3 papers
NM_178815.5
p.T30N
c.89C>A
3 papers
NM_178815.5
p.Q70L
c.209A>T
1 paper
NM_178815.5
p.K18R
c.53A>G
1 paper
NM_178815.5
p.T31S
c.91A>T
1 paper
NM_178815.5
p.T31S
c.92C>G
1 paper
NM_178815.5
p.N59D
c.175A>G
1 paper
NM_178815.5
p.S76P
c.226T>C
1 paper
NM_178815.5
p.N78D
c.232A>G
1 paper
NM_178815.5
p.E113K
c.337G>A
1 paper
NM_178815.5
p.S139L
c.416C>T
1 paper
NM_178815.5
p.E163Q
c.487G>C
1 paper
NM_178815.5
p.G164G
c.492G>A
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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."