Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP9
Variant:p.S3F

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.S3F
c.8C>T
Surrounding Variants
1 paper
NM_032496.4
p.S4S
c.12C>T
1 paper
NM_032496.4
p.R5W
c.13C>T
1 paper
NM_032496.4
p.M1insFs
c.2_3insG
2 papers
NM_032496.4
p.M1T
c.2T>C
1 paper
NM_032496.4
p.R5P
c.14G>C
1 paper
NM_032496.4
p.M1V
c.1A>G
1 paper
NM_032496.4
p.S3_P8insFs
c.7_22dup16
1 paper
NM_032496.4
p.I13V
c.37A>G
1 paper
NM_032496.4
p.I13insFs
c.39dupC
1 paper
NM_032496.4
p.P18S
c.52C>T
1 paper
NM_032496.4
p.S20N
c.59G>A
1 paper
NM_032496.4
p.S20_P21insFs
c.60_61insT
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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."