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

7 papers

NM_004815.4

p.K32*

c.94A>T

Surrounding Variants

2 papers

NM_004815.4

p.L31F

c.91C>T

1 paper

NM_004815.4

p.S33F

c.98C>T

1 paper

NM_004815.4

p.S36F

c.107C>T

3 papers

NM_004815.4

p.T26A

c.76A>G

1 paper

NM_004815.4

p.T25K

c.74C>A

1 paper

NM_004815.4

p.I39M

c.117T>G

5 papers

NM_004815.4

p.S21delFs

c.62_63delAG

5 papers

NM_004815.4

p.S21fs

c.61_62fs

4 papers

NM_004815.4

p.K46R

c.137A>G

1 paper

NM_004815.4

p.R13fs

c.37_38fs

1 paper

NM_004815.4

p.D51N

c.151G>A

1 paper

NM_004815.4

p.R13C

c.37C>T