Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP23
Variant:p.L1376P

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.L1376P
c.4127T>C
Surrounding Variants
1 paper
NM_001199417.2
p.R1373C
c.4117C>T
1 paper
NM_001199417.2
p.S1367S
c.4101G>C
1 paper
NM_001199417.2
p.S1346W
c.4037C>G
1 paper
NM_001199417.2
p.G1429fs
c.4285_4286fs
1 paper
NM_001199417.2
p.G1429insFs
c.4285_4286insT
1 paper
NM_001199417.2
p.G1429insFs
c.4287dupC
1 paper
NM_001199417.2
p.G1429G
c.4287C>A
1 paper
NM_001199417.2
p.P1430P
c.4290C>T
1 paper
NM_001199417.2
p.R1321H
c.3962G>A
1 paper
NM_001199417.2
p.N1442del1
c.4324_4325delAAC
2 papers
NM_001199417.2
p.A1293A
c.3879G>A
1 paper
NM_001199417.2
p.G1272E
c.3815G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."