Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP23
Variant:p.K48T

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.K48T
c.143A>C
Surrounding Variants
2 papers
NM_001199417.2
p.L24P
c.71T>C
1 paper
NM_001199417.2
p.R82H
c.245G>A
1 paper
NM_001199417.2
p.S87F
c.260C>T
1 paper
NM_001199417.2
p.V103M
c.307G>A
1 paper
NM_001199417.2
p.R115C
c.343C>T
1 paper
NM_001199417.2
p.V121G
c.362T>G
1 paper
NM_001199417.2
p.V123G
c.368T>G
1 paper
NM_001199417.2
p.E184D
c.552G>C
1 paper
NM_001199417.2
p.E184D
c.552G>T
1 paper
NM_001199417.2
p.R200Q
c.599G>A
2 papers
NM_001199417.2
p.R200R
c.600G>A
1 paper
NM_001199417.2
p.R220W
c.658C>T
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