ANGPTL7 c.529C>T ;(p.R177*)

Variant ID: 1-11253688-C-T

NM_021146.3(ANGPTL7):c.529C>T;(p.R177*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.

Communications Biology
Praveen, Kavita K; Patel, Gaurang C GC; Gurski, Lauren L; Ayer, Ariane H AH; Persaud, Trikaladarshi T; Still, Matthew D MD; Miloscio, Lawrence L; Van Zyl, Tavé T; Di Gioia, Silvio Alessandro SA; Brumpton, Ben B; Krebs, Kristi K; Åsvold, Bjørn Olav BO; Chen, Esteban E; Chavali, Venkata R M VRM; Fury, Wen W; Gudiseva, Harini V HV; Hyde, Sarah S; Jorgenson, Eric E; Lefebvre, Stephanie S; Li, Dadong D; Li, Alexander A; Mclninch, James J; Patel, Brijeshkumar B; Rabinowitz, Jeremy S JS; Salowe, Rebecca R; Schurmann, Claudia C; Seidelin, Anne-Sofie AS; Stahl, Eli E; Sun, Dylan D; Teslovich, Tanya M TM; Tybjærg-Hansen, Anne A; Willer, Cristen C; Waldron, Scott S; Walley, Sabrina S; Yang, Hua H; Zaveri, Sarthak S; , ; , ; , ; Hu, Ying Y; Hveem, Kristian K; Melander, Olle O; Milani, Lili L; Stender, Stefan S; O'Brien, Joan M JM; Jones, Marcus B MB; Abecasis, Gonçalo R GR; Cantor, Michael N MN; Weyne, Jonathan J; Karalis, Katia K; Economides, Aris A; Della Gatta, Giusy G; Ferreira, Manuel A MA; Yancopoulos, George D GD; Baras, Aris A; Romano, Carmelo C; Coppola, Giovanni G
Publication Date: 2022-10-03

Variant appearance in text: ANGPTL7: Arg177*
PubMed Link: 36192519
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3932.pdf
View BVdb publication page



Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.

Plos Genetics
Tanigawa, Yosuke Y; Wainberg, Michael M; Karjalainen, Juha J; Kiiskinen, Tuomo T; Venkataraman, Guhan G; Lemmelä, Susanna S; Turunen, Joni A JA; Graham, Robert R RR; Havulinna, Aki S AS; Perola, Markus M; Palotie, Aarno A; , ; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2020-05

Variant appearance in text: ANGPTL7: Arg177Ter; rs143435072
PubMed Link: 32369491
Variant Present in the following documents:
  • Main text
  • pgen.1008682.pdf
  • pgen.1008682.s024.pdf
View BVdb publication page