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

1–12 of 261 variants

13 papers

NM_004815.4

p.K326*

c.976A>T

8 papers

NM_004815.4

p.S552P

c.1654T>C

8 papers

NM_004815.4

p.G1255D

c.3764G>A

7 papers

NM_004815.4

p.K32*

c.94A>T

7 papers

NM_004815.4

p.R647*

c.1939C>T

6 papers

NM_004815.4

p.S492*

c.1475C>G

6 papers

NM_004815.4

p.S492*

c.1475C>A

6 papers

NM_004815.4

p.T622M

c.1865C>T

6 papers

NM_004815.4

p.W789*

c.2367G>A

6 papers

NM_004815.4

p.R955H

c.2864G>A

6 papers

NM_004815.4

p.G1040*

c.3118G>T

5 papers

NM_004815.4

p.S21fs

c.61_62fs