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

2 papers

NM_001030055.2

p.I163V

c.487A>G

Surrounding Variants

1 paper

NM_001030055.2

p.I163S

c.488T>G

1 paper

NM_001030055.2

p.G158R

c.472G>A

1 paper

NM_001030055.2

p.C169_N170insT

c.505_509ins3

1 paper

NM_001030055.2

p.K172*

c.514A>T

1 paper

NM_001030055.2

p.K172R

c.515A>G

1 paper

NM_001030055.2

p.E151V

c.452A>T

1 paper

NM_001030055.2

p.D175N

c.523G>A

1 paper

NM_001030055.2

p.Q176H

c.528A>T

1 paper

NM_001030055.2

p.L177F

c.529C>T

1 paper

NM_001030055.2

p.K147M

c.440A>T

1 paper

NM_001030055.2

p.Q146Q

c.438G>A

1 paper

NM_001030055.2

p.Q146*

c.436C>T