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.S521R

c.1563T>A

Surrounding Variants

1 paper

NM_004815.4

p.S521R

c.1563T>G

1 paper

NM_004815.4

p.S521R

c.1561A>C

5 papers

NM_004815.4

p.G526Splc

c.1576+1G>A

1 paper

NM_004815.4

p.G526Splc

c.1576+2T>C

1 paper

NM_004815.4

p.I513T

c.1538T>C

1 paper

NM_004815.4

p.L506P

c.1517T>C

1 paper

NM_004815.4

p.G493E

c.1478G>A

1 paper

NM_004815.4

p.G493R

c.1477G>C

1 paper

NM_004815.4

p.G493R

c.1477G>A

6 papers

NM_004815.4

p.S492*

c.1475C>G

6 papers

NM_004815.4

p.S492*

c.1475C>A

1 paper

NM_004815.4

p.Q490*

c.1468C>T