PC c.715A>G ;(p.I239V)

Variant ID: 11-66638282-T-C

NM_001040716.1(PC):c.715A>G;(p.I239V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: PC: 715A>G; I239V
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.

Bmc Medical Genetics
Plutino, Morgane M; Chaussenot, Annabelle A; Rouzier, Cécile C; Ait-El-Mkadem, Samira S; Fragaki, Konstantina K; Paquis-Flucklinger, Véronique V; Bannwarth, Sylvie S
Publication Date: 2018-04-07

Variant appearance in text: PC: 715A>G; Ile239Val
PubMed Link: 29625556
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_568.pdf
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: PC: 715A>G; Ile239Val
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page