ABCG8 c.1534G>A ;(p.G512R)

Variant ID: 2-44102330-G-A

NM_022437.2(ABCG8):c.1534G>A;(p.G512R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: ABCG8: 1534G>A; Gly512Arg
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc3.xlsx, sheet 30
  • mmc8.xlsx, sheet 29
View BVdb publication page



Features of chinese patients with sitosterolemia.

Lipids In Health And Disease
Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X
Publication Date: 2022-01-18

Variant appearance in text: ABCG8: Gly512Arg
PubMed Link: 35042526
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1619.pdf
View BVdb publication page



Features of chinese patients with sitosterolemia.

Lipids In Health And Disease
Zhou, Zhizi Z; Su, Xueying X; Cai, Yanna Y; Ting, Tzer Hwu TH; Zhang, Wen W; Lin, Yunting Y; Xu, Aijing A; Mao, Xiaojian X; Zeng, Chunhua C; Liu, Li L; Li, Xiuzhen X
Publication Date: 2022-01-18

Variant appearance in text: ABCG8: Gly512Arg
PubMed Link: 35042526
Variant Present in the following documents:
  • Main text
  • 12944_2021_Article_1619.pdf
View BVdb publication page