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.E549K

c.1645G>A

Surrounding Variants

2 papers

NM_004815.4

p.R551T

c.1652G>C

8 papers

NM_004815.4

p.S552P

c.1654T>C

4 papers

NM_004815.4

p.S552C

c.1655C>G

1 paper

NM_004815.4

p.E542*

c.1624G>T

1 paper

NM_004815.4

p.E542K

c.1624G>A

1 paper

NM_004815.4

p.F538L

c.1614T>G

1 paper

NM_004815.4

p.F538L

c.1614T>A

1 paper

NM_004815.4

p.F538L

c.1612T>C

1 paper

NM_004815.4

p.R531K

c.1592G>A

1 paper

NM_004815.4

p.P527L

c.1580C>T

1 paper

NM_004815.4

p.P527R

c.1580C>G

1 paper

NM_004815.4

p.G526Splc

c.1576+2T>C