Varaico: Literature-Extracted Genetic Variants

ARHGAP5

134 papers

RefSeq Summary

Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different...

Pfam Domains

RhoGAP-FF1aa 260–338UCSCp190-A and -B Rho GAPs FF domain

FF_RHG35_4thaa 429–483UCSCRho GTPase-activating protein 35-like, FF domain

FFaa 485–545UCSCFF domain

RhoGAP_pG1_pG2aa 556–1264UCSCp190RhoGAP, pG1 and pG2 domains

RhoGAPaa 1275–1422UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 5

HGNC Previous Symbol

GFI2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001030055.2

p.V185A

c.554T>C

Surrounding Variants

1 paper

NM_001030055.2

p.Q186*

c.556C>T

1 paper

NM_001030055.2

p.S188L

c.563C>T

1 paper

NM_001030055.2

p.N181S

c.542A>G

1 paper

NM_001030055.2

p.N181I

c.542A>T

1 paper

NM_001030055.2

p.S190fs

c.568_569fs

1 paper

NM_001030055.2

p.K192insFs

c.576dupA

1 paper

NM_001030055.2

p.P193fs

c.577_578fs

1 paper

NM_001030055.2

p.L177F

c.529C>T

1 paper

NM_001030055.2

p.Q176H

c.528A>T

1 paper

NM_001030055.2

p.I195T

c.584T>C

1 paper

NM_001030055.2

p.D175N

c.523G>A

1 paper

NM_001030055.2

p.A197T

c.589G>A