Varaico: Literature-Extracted Genetic Variants

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

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

2 papers

NM_032496.4

p.R55G

c.163C>G

Surrounding Variants

1 paper

NM_032496.4

p.L52L

c.154C>T

1 paper

NM_032496.4

p.D60_W61insT

c.178_182ins3

1 paper

NM_032496.4

p.W61G

c.181T>G

1 paper

NM_032496.4

p.A46_E47ins1

c.138_139insAGC

1 paper

NM_032496.4

p.L63F

c.189G>T

1 paper

NM_032496.4

p.L63F

c.189G>C

1 paper

NM_032496.4

p.L63delFs

c.189delC

1 paper

NM_032496.4

p.L45L

c.133C>T

1 paper

NM_032496.4

p.R66C

c.196C>T

1 paper

NM_032496.4

p.Q42R

c.125A>G

1 paper

NM_032496.4

p.A69fs

c.205_206fs

1 paper

NM_032496.4

p.G40ins2

c.119_120ins6