PC c.3493G>C ;(p.D1165H)

Variant ID: 11-66616414-C-G

NM_001040716.1(PC):c.3493G>C;(p.D1165H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Characterization of the membrane interactions of phospholipase Cγ reveals key features of the active enzyme.

Science Advances
Le Huray, Kyle I P KIP; Bunney, Tom D TD; Pinotsis, Nikos N; Kalli, Antreas C AC; Katan, Matilda M
Publication Date: 2022-06-24

Variant appearance in text: PC: D1165H
PubMed Link: 35749497
Variant Present in the following documents:
  • Main text
  • sciadv.abp9688.pdf
View BVdb publication page



Dynamics of allosteric regulation of the phospholipase C-γ isozymes upon recruitment to membranes.

Elife
Siraliev-Perez, Edhriz E; Stariha, Jordan T B JTB; Hoffmann, Reece M RM; Temple, Brenda R S BRS; Zhang, Qisheng Q; Hajicek, Nicole N; Jenkins, Meredith L ML; Burke, John E JE; Sondek, John J
Publication Date: 2022-06-16

Variant appearance in text: PC: D1165H
PubMed Link: 35708309
Variant Present in the following documents:
  • elife-77809.pdf
View BVdb publication page



Structural insights and activating mutations in diverse pathologies define mechanisms of deregulation for phospholipase C gamma enzymes.

Ebiomedicine
Liu, Yang Y; Bunney, Tom D TD; Khosa, Sakshi S; Macé, Kévin K; Beckenbauer, Katharina K; Askwith, Trevor T; Maslen, Sarah S; Stubbs, Christopher C; de Oliveira, Taiana M TM; Sader, Kasim K; Skehel, Mark M; Gavin, Anne-Claude AC; Phillips, Christopher C; Katan, Matilda M
Publication Date: 2020-01

Variant appearance in text: PC: D1165H
PubMed Link: 31918402
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page