Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP9
Variant:p.D583N

ARHGAP9

147 papers

RefSeq Summary

This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP...

Pfam Domains

SH3_1aa 28–70UCSCSH3 domain
SH3_1aa 28–70UCSCSH3 domain
PHaa 323–435UCSCPH domain
PHaa 323–435UCSCPH domain
RhoGAPaa 556–722UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 9

HGNC Alias Symbols

MGC1295; 10C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032496.4
p.D583N
c.1747G>A
Surrounding Variants
1 paper
NM_032496.4
p.L573P
c.1718T>C
2 papers
NM_032496.4
p.G562R
c.1684G>C
2 papers
NM_032496.4
p.G562R
c.1684G>A
1 paper
NM_032496.4
p.R559L
c.1676G>T
1 paper
NM_032496.4
p.I557delFs
c.1670delA
1 paper
NM_032496.4
p.E595Splc
c.1784-10C>A
1 paper
NM_032496.4
p.E595G
c.1784A>G
3 papers
NM_032496.4
p.R597W
c.1789C>T
1 paper
NM_032496.4
p.D606delFs
c.1816delC
1 paper
NM_032496.4
p.D606fs
c.1816_1817fs
4 papers
NM_032496.4
p.R620W
c.1858C>T
1 paper
NM_032496.4
p.R620Q
c.1859G>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."