Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP23
Variant:p.A1202fs

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.A1202fs
c.3604_3605fs
Surrounding Variants
1 paper
NM_001199417.2
p.G1201_A1202delFs
c.3601_3605del5
1 paper
NM_001199417.2
p.R1183Q
c.3548G>A
1 paper
NM_001199417.2
p.E1224K
c.3670G>A
1 paper
NM_001199417.2
p.D1242N
c.3724G>A
1 paper
NM_001199417.2
p.G1272E
c.3815G>A
2 papers
NM_001199417.2
p.A1293A
c.3879G>A
1 paper
NM_001199417.2
p.R1321H
c.3962G>A
1 paper
NM_001199417.2
p.S1346W
c.4037C>G
1 paper
NM_001199417.2
p.S1367S
c.4101G>C
1 paper
NM_001199417.2
p.R1373C
c.4117C>T
1 paper
NM_001199417.2
p.L1376P
c.4127T>C
1 paper
NM_001199417.2
p.G1429fs
c.4285_4286fs
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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."