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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGAP32

Variant:p.S47C

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:129164404 G>C

NM_001378024.1

p.S47C

c.140C>G

exact variant not in gnomAD2 overlapping SVs

Surrounding Variants

1 paper

chr11:129164371 C>A

NM_001378024.1

p.R58I

c.173G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr11:129164371 C>T

NM_001378024.1

p.R58K

c.173G>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a2 overlapping SVs

1 paper

chr11:129164356 C>T

NM_001378024.1

p.R63Q

c.188G>A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)2 overlapping SVs

1 paper

chr11:129164350 C>T

NM_001378024.1

p.R65Q

c.194G>A

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=3, hom=0)2 overlapping SVs

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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."