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.K329fs

c.985_986fs

Surrounding Variants

1 paper

NM_004815.4

p.K329delFs

c.987delT

1 paper

NM_004815.4

p.K329T

c.986A>C

13 papers

NM_004815.4

p.K326*

c.976A>T

1 paper

NM_004815.4

p.N323D

c.967A>G

1 paper

NM_004815.4

p.D337G

c.1010A>G

1 paper

NM_004815.4

p.L319R

c.956T>G

1 paper

NM_004815.4

p.M318_L319Splc

c.955-8C>A

1 paper

NM_004815.4

p.R348C

c.1042C>T

1 paper

NM_004815.4

p.R348L

c.1043G>T

1 paper

NM_004815.4

p.R348H

c.1043G>A

1 paper

NM_004815.4

p.G359R

c.1075G>C

1 paper

NM_004815.4

p.G359R

c.1075G>A