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.N597N

c.1791C>T

Surrounding Variants

1 paper

NM_001030055.2

p.V596I

c.1786G>A

2 papers

NM_001030055.2

p.D594N

c.1780G>A

1 paper

NM_001030055.2

p.L610P

c.1829T>C

1 paper

NM_001030055.2

p.N612S

c.1835A>G

1 paper

NM_001030055.2

p.E613*

c.1837G>T

1 paper

NM_001030055.2

p.H581Q

c.1743T>A

1 paper

NM_001030055.2

p.H581H

c.1743T>C

1 paper

NM_001030055.2

p.H581Q

c.1743T>G

1 paper

NM_001030055.2

p.S618F

c.1853C>T

1 paper

NM_001030055.2

p.S575N

c.1724G>A

1 paper

NM_001030055.2

p.S574S

c.1722T>C

1 paper

NM_001030055.2

p.D621H

c.1861G>C