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

6 papers

NM_004815.4

p.T622M

c.1865C>T

Surrounding Variants

4 papers

NM_004815.4

p.R616H

c.1847G>A

1 paper

NM_004815.4

p.R616C

c.1846C>T

1 paper

NM_004815.4

p.V631insFs

c.1892_1893dupTA

1 paper

NM_004815.4

p.M606T

c.1817T>C

1 paper

NM_004815.4

p.E639K

c.1915G>A

5 papers

NM_004815.4

p.E640_C641Splc

c.1920+1G>A

1 paper

NM_004815.4

p.L598F

c.1792C>T

1 paper

NM_004815.4

p.E640_C641Splc

c.1920+20G>C

1 paper

NM_004815.4

p.E640_C641Splc

c.1921-50T>C

7 papers

NM_004815.4

p.R647*

c.1939C>T

1 paper

NM_004815.4

p.R647Q

c.1940G>A

1 paper

NM_004815.4

p.K661Q

c.1981A>C