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.W789*

c.2367G>A

Surrounding Variants

1 paper

NM_004815.4

p.W789C

c.2367G>T

5 papers

NM_004815.4

p.W789*

c.2366G>A

1 paper

NM_004815.4

p.M792V

c.2374A>G

1 paper

NM_004815.4

p.L784F

c.2350C>T

1 paper

NM_004815.4

p.N782fs

c.2344_2345fs

1 paper

NM_004815.4

p.K781insFs

c.2342dupA

5 papers

NM_004815.4

p.R798Q

c.2393G>A

1 paper

NM_004815.4

p.E775delFs

c.2323_2324delTC

1 paper

NM_004815.4

p.K804R

c.2411A>G

1 paper

NM_004815.4

p.H772Y

c.2314C>T

1 paper

NM_004815.4

p.R808T

c.2423G>C

1 paper

NM_004815.4

p.A767V

c.2300C>T