Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP17
Variant:p.Q167*

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001006634.3
p.Q167*
c.499C>T
Surrounding Variants
1 paper
NM_001006634.3
p.G163R
c.487G>C
1 paper
NM_001006634.3
p.G163R
c.487G>A
1 paper
NM_001006634.3
p.M180L
c.538A>T
1 paper
NM_001006634.3
p.N185D
c.553A>G
1 paper
NM_001006634.3
p.Q189K
c.565C>A
1 paper
NM_001006634.3
p.K243T
c.728A>C
1 paper
NM_001006634.3
p.A249T
c.745G>A
1 paper
NM_001006634.3
p.R263R
c.789C>T
1 paper
NM_001006634.3
p.V273I
c.817G>A
1 paper
NM_001006634.3
p.M281V
c.841A>G
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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."