Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP33
Variant:p.L176L

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
Selected Variant
1 paper
NM_001366178.1
p.L176L
c.528C>T
Surrounding Variants
1 paper
NM_001366178.1
p.A191T
c.571G>A
1 paper
NM_001366178.1
p.I212S
c.635T>G
1 paper
NM_001366178.1
p.P262R
c.785C>G
1 paper
NM_001366178.1
p.A267T
c.799G>A
1 paper
NM_001366178.1
p.R282H
c.845G>A
1 paper
NM_001366178.1
p.R290C
c.868C>T
1 paper
NM_001366178.1
p.R303Q
c.908G>A
1 paper
NM_001366178.1
p.L308R
c.923T>G
1 paper
NM_001366178.1
p.V328Splc
c.983-18G>C
1 paper
NM_001366178.1
p.R333fs
c.997_998fs
1 paper
NM_001366178.1
p.R333delFs
c.998delG
1 paper
NM_001366178.1
p.C335R
c.1003T>C
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