Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP32
Variant:p.Y1222delFs

ARHGAP32

68 papers

RefSeq Summary

RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 125...

Pfam Domains

SH3_9aa 280–331UCSCVariant SH3 domain
RhoGAPaa 400–548UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 32

HGNC Alias Symbols

GRIT; KIAA0712; MGC1892; RICS; GC-GAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001378024.1
p.Y1222delFs
c.3666delG
Surrounding Variants
1 paper
NM_001378024.1
p.L1212M
c.3634T>A
1 paper
NM_001378024.1
p.D1199_S1201delFs
c.3597_3601del5
1 paper
NM_001378024.1
p.T1162T
c.3486A>G
1 paper
NM_001378024.1
p.K1074K
c.3222G>A
1 paper
NM_001378024.1
p.K1074R
c.3221A>G
1 paper
NM_001378024.1
p.T898P
c.2692A>C
1 paper
NM_001378024.1
p.G1354E
c.4061G>A
1 paper
NM_001378024.1
p.V1358V
c.4074T>C
1 paper
NM_001378024.1
p.A1404V
c.4211C>T
1 paper
NM_001378024.1
p.F814F
c.2442T>C
1 paper
NM_001378024.1
p.H1442Q
c.4326C>G
1 paper
NM_001378024.1
p.G778R
c.2332G>A
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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."