Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP33

ARHGAP33

70 papers

RefSeq Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Al...

Pfam Domains

SH3_2aa 191–246UCSCVariant SH3 domain
RhoGAPaa 329–477UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 33

HGNC Previous Symbol

SNX26

Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
3 papers
NM_001366178.1
p.V499M
c.1495G>A
2 papers
NM_001366178.1
p.R555W
c.1663C>T
1 paper
NM_001366178.1
p.A3V
c.8C>T
1 paper
NM_001366178.1
p.T6A
c.16A>G
1 paper
NM_001366178.1
p.G13G
c.39G>C
1 paper
NM_001366178.1
p.R40Q
c.119G>A
1 paper
NM_001366178.1
p.P44Q
c.131C>A
1 paper
NM_001366178.1
p.A50A
c.150C>T
1 paper
NM_001366178.1
p.R92H
c.275G>A
1 paper
NM_001366178.1
p.W94*
c.281G>A
1 paper
NM_001366178.1
p.W94*
c.282G>A
1 paper
NM_001366178.1
p.P123L
c.368C>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."