Varaico: Literature-Extracted Genetic Variants

Gene:ARL13B
Variant:p.S99R

ARL13B

164 papers

RefSeq Summary

This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protei...

Pfam Domains

Arfaa 9–190UCSCADP-ribosylation factor family

Gene Aliases

HGNC Name

ARF like GTPase 13B

HGNC Previous Symbol

ARL2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001174150.2
p.S99R
c.297T>G
Surrounding Variants
1 paper
NM_001174150.2
p.S99R
c.297T>A
1 paper
NM_001174150.2
p.S99I
c.296G>T
1 paper
NM_001174150.2
p.S99R
c.295A>C
1 paper
NM_001174150.2
p.E101_E105del0
c.303_314del12
1 paper
NM_001174150.2
p.E102delFs
c.304_305delGA
1 paper
NM_001174150.2
p.D97H
c.289G>C
2 papers
NM_001174150.2
p.Y90C
c.269A>G
1 paper
NM_001174150.2
p.E109K
c.325G>A
12 papers
NM_001174150.2
p.Y86C
c.257A>G
1 paper
NM_001174150.2
p.K83E
c.247A>G
7 papers
NM_001174150.2
p.W82*
c.246G>A
7 papers
NM_001174150.2
p.W82*
c.245G>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."