PC c.244G>C ;(p.E82Q)

Variant ID: 11-66639235-C-G

NM_001040716.1(PC):c.244G>C;(p.E82Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: PC: 244G>C
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Electrostatic interaction of phytochromobilin synthase and ferredoxin for biosynthesis of phytochrome chromophore.

The Journal Of Biological Chemistry
Chiu, Fang-Yi FY; Chen, Yu-Rong YR; Tu, Shih-Long SL
Publication Date: 2010-02-12

Variant appearance in text: PCB: E82Q
PubMed Link: 19996315
Variant Present in the following documents:
  • Main text
View BVdb publication page