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.Q1159L

c.3476A>T

Surrounding Variants

1 paper

NM_004815.4

p.A1150S

c.3448G>T

1 paper

NM_004815.4

p.H1170Y

c.3508C>T

1 paper

NM_004815.4

p.R1142L

c.3425G>T

4 papers

NM_004815.4

p.R1142Q

c.3425G>A

1 paper

NM_004815.4

p.P1131L

c.3392C>T

1 paper

NM_004815.4

p.P1127A

c.3379C>G

1 paper

NM_004815.4

p.V1202L

c.3604G>T

1 paper

NM_004815.4

p.V1202L

c.3604G>C

2 papers

NM_004815.4

p.I1113M

c.3339T>G

1 paper

NM_004815.4

p.Q1112*

c.3334C>T

1 paper

NM_004815.4

p.T1109del1

c.3325_3326delTGT

1 paper

NM_004815.4

p.T1109K

c.3326C>A