Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP23
Variant:p.Q317H

ARHGAP23

83 papers

RefSeq Summary

The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form...

Pfam Domains

PDZ_6aa 99–151UCSCPDZ domain
PH_9aa 690–806UCSCPleckstrin homology domain
RhoGAPaa 920–1069UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 23

HGNC Alias Symbol

KIAA1501

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001199417.2
p.Q317H
c.951G>T
Surrounding Variants
1 paper
NM_001199417.2
p.Q317H
c.951G>C
1 paper
NM_001199417.2
p.R327C
c.979C>T
1 paper
NM_001199417.2
p.P278L
c.833C>T
1 paper
NM_001199417.2
p.R357W
c.1069C>T
1 paper
NM_001199417.2
p.A362A
c.1086C>T
1 paper
NM_001199417.2
p.Q249K
c.745C>A
1 paper
NM_001199417.2
p.P393L
c.1178C>T
1 paper
NM_001199417.2
p.L397L
c.1189C>T
1 paper
NM_001199417.2
p.D412G
c.1235A>G
1 paper
NM_001199417.2
p.R220Q
c.659G>A
1 paper
NM_001199417.2
p.R220W
c.658C>T
1 paper
NM_001199417.2
p.H434R
c.1301A>G
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