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

3 papers

NM_001030055.2

p.I17V

c.49A>G

Surrounding Variants

1 paper

NM_001030055.2

p.V18F

c.52G>T

2 papers

NM_001030055.2

p.S21F

c.62C>T

2 papers

NM_001030055.2

p.G22E

c.65G>A

1 paper

NM_001030055.2

p.P11L

c.32C>T

1 paper

NM_001030055.2

p.P10P

c.30C>G

1 paper

NM_001030055.2

p.T23I

c.68C>T

1 paper

NM_001030055.2

p.E24Q

c.70G>C

1 paper

NM_001030055.2

p.D26E

c.78C>A

1 paper

NM_001030055.2

p.D26E

c.78C>G

1 paper

NM_001030055.2

p.E7Q

c.19G>C

1 paper

NM_001030055.2

p.K6K

c.18A>G

1 paper

NM_001030055.2

p.K27N

c.81A>C