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.N1057delFs

c.3170delT

Surrounding Variants

1 paper

NM_004815.4

p.N1057fs

c.3169_3170fs

1 paper

NM_004815.4

p.N1057fs

c.3169_3170fs

1 paper

NM_004815.4

p.A1052V

c.3155C>T

1 paper

NM_004815.4

p.T1064_V1065ins1

c.3192_3193insTCT

1 paper

NM_004815.4

p.V1042L

c.3124G>C

6 papers

NM_004815.4

p.G1040*

c.3118G>T

1 paper

NM_004815.4

p.L1077fs

c.3229_3230fs

1 paper

NM_004815.4

p.K1079E

c.3235A>G

1 paper

NM_004815.4

p.N1032H

c.3094A>C

1 paper

NM_004815.4

p.N1088T

c.3263A>C

1 paper

NM_004815.4

p.M1096V

c.3286A>G

1 paper

NM_004815.4

p.T1013S

c.3038C>G