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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGAP15

Variant:p.V52A

ARHGAP15

60 papers

RefSeq Summary

RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940])...

Pfam Domains

PHaa 80–189UCSCPH domain

RhoGAPaa 295–443UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 15

HGNC Alias Symbol

BM046

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:143155645 T>C

NM_018460.4

p.V52A

c.155T>C

Exome: 0.0% (AC=25, hom=1)Genome: 0.0% (AC=6, hom=0)119 overlapping SVs

Surrounding Variants

1 paper

chr2:143155648 C>T

NM_018460.4

p.T53I

c.158C>T

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)119 overlapping SVs

2 papers

chr2:143155638 G>A

NM_018460.4

p.G50R

c.148G>A

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)119 overlapping SVs

2 papers

chr2:143155638 G>C

NM_018460.4

p.G50R

c.148G>C

exact variant not in gnomAD119 overlapping SVs

1 paper

chr2:143155632 G>T

NM_018460.4

p.D48Y

c.142G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a119 overlapping SVs

1 paper

chr2:143155622 G>A

NM_018460.4

p.M44I

c.132G>A

exact variant not in gnomAD119 overlapping SVs

1 paper

chr2:143155622 G>C

NM_018460.4

p.M44I

c.132G>C

exact variant not in gnomAD119 overlapping SVs

1 paper

chr2:143155622 G>T

NM_018460.4

p.M44I

c.132G>T

exact variant not in gnomAD119 overlapping SVs

1 paper

chr2:143155520 C>T

NM_018460.4

p.S10S

c.30C>T

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=1, hom=0)119 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."