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.V66L

c.196G>T

Surrounding Variants

1 paper

NM_001030055.2

p.V66V

c.198A>G

1 paper

NM_001030055.2

p.R65Q

c.194G>A

1 paper

NM_001030055.2

p.F62Y

c.185T>A

1 paper

NM_001030055.2

p.L57fs

c.169_170fs

1 paper

NM_001030055.2

p.L57insFs

c.169_170insT

1 paper

NM_001030055.2

p.L57F

c.169C>T

1 paper

NM_001030055.2

p.W75S

c.224G>C

1 paper

NM_001030055.2

p.G76A

c.227G>C

1 paper

NM_001030055.2

p.D77V

c.230A>T

1 paper

NM_001030055.2

p.T54I

c.161C>T

1 paper

NM_001030055.2

p.I79L

c.235A>C

1 paper

NM_001030055.2

p.I79M

c.237A>G