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.A872V

c.2615C>T

Surrounding Variants

2 papers

NM_004815.4

p.R873C

c.2617C>T

3 papers

NM_004815.4

p.V875I

c.2623G>A

1 paper

NM_004815.4

p.Y868_S869insFs

c.2604_2605ins44

1 paper

NM_004815.4

p.S864P

c.2590T>C

1 paper

NM_004815.4

p.I862I

c.2586C>T

1 paper

NM_004815.4

p.I862T

c.2585T>C

1 paper

NM_004815.4

p.D887V

c.2660A>T

1 paper

NM_004815.4

p.P853L

c.2558C>T

1 paper

NM_004815.4

p.Q893P

c.2678A>C

1 paper

NM_004815.4

p.I845L

c.2533A>T

5 papers

NM_004815.4

p.I845V

c.2533A>G

1 paper

NM_004815.4

p.I845L

c.2533A>C