Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP33
Variant:p.S1000N

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.S1000N
c.2999G>A
Surrounding Variants
1 paper
NM_001366178.1
p.P996S
c.2986C>T
1 paper
NM_001366178.1
p.P1024L
c.3071C>T
1 paper
NM_001366178.1
p.P1050S
c.3148C>T
1 paper
NM_001366178.1
p.D1080insFs
c.3238_3239insGG
1 paper
NM_001366178.1
p.E1083insFs
c.3247_3248insGG
1 paper
NM_001366178.1
p.L1085insFs
c.3254dupT
1 paper
NM_001366178.1
p.R898S
c.2692C>A
1 paper
NM_001366178.1
p.G886W
c.2656G>T
1 paper
NM_001366178.1
p.P1158S
c.3472C>T
1 paper
NM_001366178.1
p.Q864insFs
c.2590_2591insG
1 paper
NM_001366178.1
p.H835Y
c.2503C>T
1 paper
NM_001366178.1
p.P1231S
c.3691C>T
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