ABCG8 c.1035C>T ;(p.L345=)

Variant ID: 2-44099185-C-T

NM_022437.2(ABCG8):c.1035C>T;(p.L345=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: ABCG8: L345L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Liu, Xiangyin X; Xi, Qi Q; Li, Leilei L; Wang, Qiyuan Q; Jiang, Yuting Y; Zhang, Hongguo H; Liu, Ruizhi R; Wang, Ruixue R
Publication Date: 2019-08-04

Variant appearance in text: ABCG8: 1035C>T
PubMed Link: 31377750
Variant Present in the following documents:
  • Main text
  • medscimonit-25-5801.pdf
View BVdb publication page