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

1–12 of 358 variants

15 papers

NM_001030055.2

p.E489K

c.1465G>A

5 papers

NM_001030055.2

p.V474A

c.1421T>C

4 papers

NM_001030055.2

p.E481*

c.1441G>T

4 papers

NM_001030055.2

p.E488*

c.1462G>T

3 papers

NM_001030055.2

p.I17V

c.49A>G

3 papers

NM_001030055.2

p.R480*

c.1438C>T

2 papers

NM_001030055.2

p.S21F

c.62C>T

2 papers

NM_001030055.2

p.G22E

c.65G>A

2 papers

NM_001030055.2

p.R43C

c.127C>T

2 papers

NM_001030055.2

p.I163V

c.487A>G

2 papers

NM_001030055.2

p.V205M

c.613G>A

2 papers

NM_001030055.2

p.K220N

c.660G>T