Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP9
Variant:p.R247H

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.R247H
c.740G>A
Surrounding Variants
1 paper
NM_032496.4
p.R247C
c.739C>T
2 papers
NM_032496.4
p.R246C
c.736C>T
1 paper
NM_032496.4
p.R249R
c.747C>G
1 paper
NM_032496.4
p.P244P
c.732C>A
1 paper
NM_032496.4
p.E251K
c.751G>A
1 paper
NM_032496.4
p.T252M
c.755C>T
1 paper
NM_032496.4
p.T237N
c.710C>A
1 paper
NM_032496.4
p.Y232Y
c.696C>T
1 paper
NM_032496.4
p.R229C
c.685C>T
1 paper
NM_032496.4
p.G228G
c.684A>T
1 paper
NM_032496.4
p.N226S
c.677A>G
1 paper
NM_032496.4
p.P225S
c.673C>T
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