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.N416D

c.1246A>G

Surrounding Variants

1 paper

NM_001030055.2

p.Q415Q

c.1245G>A

1 paper

NM_001030055.2

p.Y414C

c.1241A>G

1 paper

NM_001030055.2

p.V413V

c.1239C>T

1 paper

NM_001030055.2

p.Q419H

c.1257G>T

2 papers

NM_001030055.2

p.L421P

c.1262T>C

1 paper

NM_001030055.2

p.E409K

c.1225G>A

1 paper

NM_001030055.2

p.E429Q

c.1285G>C

1 paper

NM_001030055.2

p.P401S

c.1201C>T

1 paper

NM_001030055.2

p.R398T

c.1193G>C

1 paper

NM_001030055.2

p.T437I

c.1310C>T

1 paper

NM_001030055.2

p.E439K

c.1315G>A

1 paper

NM_001030055.2

p.H391Q

c.1173T>A