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.I99T

c.296T>C

Surrounding Variants

1 paper

NM_001030055.2

p.T96S

c.286A>T

1 paper

NM_001030055.2

p.T103insFs

c.308_309insC

1 paper

NM_001030055.2

p.E94K

c.280G>A

1 paper

NM_001030055.2

p.E94Q

c.280G>C

1 paper

NM_001030055.2

p.I90M

c.270T>G

1 paper

NM_001030055.2

p.S109N

c.326G>A

1 paper

NM_001030055.2

p.C88Y

c.263G>A

1 paper

NM_001030055.2

p.C88R

c.262T>C

1 paper

NM_001030055.2

p.N111I

c.332A>T

1 paper

NM_001030055.2

p.E87Q

c.259G>C

1 paper

NM_001030055.2

p.V86L

c.256G>C

1 paper

NM_001030055.2

p.Q113*

c.337C>T