Varaico: Literature-Extracted Genetic Variants

ARHGAP29

167 papers

RefSeq Summary

Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form ...

Pfam Domains

RHG29_45_Naa 45–151UCSCRho GTPase-activating protein 29/45 N-terminal

GMIP-like_FCHaa 202–474UCSCGEM-interacting protein-like, FCH domain

C1_1aa 613–660UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

RhoGAPaa 685–855UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 29

HGNC Alias Symbol

PARG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004815.4

p.Q703H

c.2109G>T

Surrounding Variants

1 paper

NM_004815.4

p.Q703H

c.2109G>C

5 papers

NM_004815.4

p.Q703_G704Splc

c.2109+1G>A

1 paper

NM_004815.4

p.L702P

c.2105T>C

1 paper

NM_004815.4

p.R698T

c.2093G>C

1 paper

NM_004815.4

p.G683V

c.2048G>T

1 paper

NM_004815.4

p.E680fs

c.2038_2039fs

1 paper

NM_004815.4

p.K679fs

c.2035_2036fs

1 paper

NM_004815.4

p.K679delFs

c.2036delT

1 paper

NM_004815.4

p.F673V

c.2017T>G

1 paper

NM_004815.4

p.L668F

c.2004A>T

1 paper

NM_004815.4

p.L668F

c.2004A>C

1 paper

NM_004815.4

p.G664E

c.1991G>A