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.V224L

c.670G>C

Surrounding Variants

1 paper

NM_001030055.2

p.V224L

c.670G>T

1 paper

NM_001030055.2

p.L223R

c.668T>G

1 paper

NM_001030055.2

p.K220N

c.660G>C

2 papers

NM_001030055.2

p.K220N

c.660G>T

1 paper

NM_001030055.2

p.A229E

c.686C>A

1 paper

NM_001030055.2

p.A229G

c.686C>G

1 paper

NM_001030055.2

p.A229V

c.686C>T

2 papers

NM_001030055.2

p.R230*

c.688C>T

1 paper

NM_001030055.2

p.S217S

c.651A>G

1 paper

NM_001030055.2

p.S217S

c.651A>T

1 paper

NM_001030055.2

p.N234fs

c.700_701fs

1 paper

NM_001030055.2

p.A214S

c.640G>T