Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARHGAP17

Variant:p.S41S

ARHGAP17

63 papers

RefSeq Summary

RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr...

Pfam Domains

BARaa 1–239UCSCBAR domain

RhoGAPaa 266–412UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 17

HGNC Alias Symbols

RICH1; FLJ10308; NADRIN; FLJ13219; WBP15

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:24977290 T>C

NM_001006634.3

p.S41S

c.123A>G

BAR

exact variant not in gnomAD4 overlapping SVs

Surrounding Variants

1 paper

chr16:24977295 G>A

NM_001006634.3

p.R40W

c.118C>T

BAR

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=2, hom=0)4 overlapping SVs

1 paper

chr16:24977309 C>T

NM_001006634.3

p.R35H

c.104G>A

BAR

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)4 overlapping SVs

1 paper

chr16:24977259 C>T

NM_001006634.3

p.A52T

c.154G>A

BAR

Exome: 0.0% (AC=0, hom=0)Genome: n/a4 overlapping SVs

1 paper

chr16:24977227 G>A

NM_001006634.3

p.A62A

c.186C>T

BAR

Exome: 0.0% (AC=70, hom=0)Genome: 0.0% (AC=8, hom=0)4 overlapping SVs

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."