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

2 papers

NM_004815.4

p.R955C

c.2863C>T

Surrounding Variants

6 papers

NM_004815.4

p.R955H

c.2864G>A

1 paper

NM_004815.4

p.A959V

c.2876C>T

1 paper

NM_004815.4

p.T948T

c.2844A>C

1 paper

NM_004815.4

p.K962R

c.2885A>G

1 paper

NM_004815.4

p.R946Q

c.2837G>A

1 paper

NM_004815.4

p.R946*

c.2836C>T

1 paper

NM_004815.4

p.E945K

c.2833G>A

1 paper

NM_004815.4

p.A965G

c.2894C>G

1 paper

NM_001328667.2

p.T872I

c.2615C>T

1 paper

NM_004815.4

p.E932G

c.2795A>G

1 paper

NM_004815.4

p.F928V

c.2782T>G

4 papers

NM_004815.4

p.S913L

c.2738C>T