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.K254N

c.762A>C

Surrounding Variants

1 paper

NM_001030055.2

p.P257S

c.769C>T

1 paper

NM_001030055.2

p.P257P

c.771C>A

1 paper

NM_001030055.2

p.L259V

c.775T>G

1 paper

NM_001030055.2

p.R250G

c.748C>G

1 paper

NM_001030055.2

p.L259S

c.776T>C

1 paper

NM_001030055.2

p.A261S

c.781G>T

1 paper

NM_001030055.2

p.D247G

c.740A>G

1 paper

NM_001030055.2

p.T264I

c.791C>T

1 paper

NM_001030055.2

p.Q244*

c.730C>T

1 paper

NM_001030055.2

p.E236K

c.706G>A

1 paper

NM_001030055.2

p.D274N

c.820G>A

1 paper

NM_001030055.2

p.D274A

c.821A>C