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

1 paper

NM_032496.4

p.L194L

c.580C>T

Surrounding Variants

1 paper

NM_032496.4

p.L197P

c.590T>C

2 papers

NM_032496.4

p.S186A

c.556T>G

2 papers

NM_032496.4

p.P204S

c.610C>T

1 paper

NM_032496.4

p.G207D

c.620G>A

1 paper

NM_032496.4

p.T178_A179Splc

c.535-3C>T

1 paper

NM_032496.4

p.P211S

c.631C>T

1 paper

NM_032496.4

p.L212V

c.634C>G

1 paper

NM_032496.4

p.H222Q

c.666C>G

1 paper

NM_032496.4

p.D224N

c.670G>A

1 paper

NM_032496.4

p.P225S

c.673C>T

1 paper

NM_032496.4

p.N226S

c.677A>G

1 paper

NM_032496.4

p.G228G

c.684A>T