Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP9
Variant:p.E158K

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.E158K
c.472G>A
Surrounding Variants
1 paper
NM_032496.4
p.S161R
c.481A>C
1 paper
NM_032496.4
p.G162E
c.485G>A
1 paper
NM_032496.4
p.R163S
c.489A>C
1 paper
NM_032496.4
p.S164T
c.490T>A
1 paper
NM_032496.4
p.L148P
c.443T>C
1 paper
NM_032496.4
p.Q167H
c.501G>C
1 paper
NM_032496.4
p.D169delFs
c.505_506delTC
1 paper
NM_032496.4
p.P171L
c.512C>T
1 paper
NM_032496.4
p.P171P
c.513G>C
1 paper
NM_032496.4
p.K138_M139insAGC
c.412_416ins9
1 paper
NM_032496.4
p.T178_A179Splc
c.534+1G>A
2 papers
NM_032496.4
p.R137C
c.409C>T
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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."