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.D47N

c.139G>A

Surrounding Variants

1 paper

NM_001030055.2

p.A46V

c.137C>T

1 paper

NM_001030055.2

p.E48K

c.142G>A

1 paper

NM_001030055.2

p.A46P

c.136G>C

1 paper

NM_001030055.2

p.K45I

c.134A>T

1 paper

NM_001030055.2

p.S44*

c.131C>A

1 paper

NM_001030055.2

p.S44*

c.131C>G

1 paper

NM_001030055.2

p.R43R

c.129C>T

1 paper

NM_001030055.2

p.R43H

c.128G>A

2 papers

NM_001030055.2

p.R43C

c.127C>T

1 paper

NM_001030055.2

p.F41I

c.121T>A

1 paper

NM_001030055.2

p.T54I

c.161C>T

1 paper

NM_001030055.2

p.L57fs

c.169_170fs