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.N308_L309insC

c.922_926ins3

Surrounding Variants

1 paper

NM_001030055.2

p.I307V

c.919A>G

1 paper

NM_001030055.2

p.I307F

c.919A>T

2 papers

NM_001030055.2

p.L297*

c.890T>A

2 papers

NM_001030055.2

p.L297*

c.890T>G

1 paper

NM_001030055.2

p.I323V

c.967A>G

1 paper

NM_001030055.2

p.E324D

c.972A>C

1 paper

NM_001030055.2

p.E324D

c.972A>T

1 paper

NM_001030055.2

p.Q328P

c.983A>C

1 paper

NM_001030055.2

p.Q328Q

c.984G>A

1 paper

NM_001030055.2

p.D285N

c.853G>A

1 paper

NM_001030055.2

p.R332fs

c.994_995fs

1 paper

NM_001030055.2

p.V283L

c.847G>C