Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP23
Variant:p.R640H

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
2 papers
NM_001199417.2
p.R640H
c.1919G>A
Surrounding Variants
1 paper
NM_001199417.2
p.R644H
c.1931G>A
1 paper
NM_001199417.2
p.T588I
c.1763C>T
4 papers
NM_001199417.2
p.D688N
c.2062G>A
1 paper
NM_001199417.2
p.R528H
c.1583G>A
1 paper
NM_001199417.2
p.R525Q
c.1574G>A
1 paper
NM_001199417.2
p.E516K
c.1546G>A
1 paper
NM_001199417.2
p.A506T
c.1516G>A
1 paper
NM_001199417.2
p.K500K
c.1500G>A
1 paper
NM_001199417.2
p.P496A
c.1486C>G
1 paper
NM_001199417.2
p.R485C
c.1453C>T
1 paper
NM_001199417.2
p.S457L
c.1370C>T
1 paper
NM_001199417.2
p.A456V
c.1367C>T
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