ABCB11 c.764G>A ;(p.G255E)

Variant ID: 2-169850240-C-T

NM_003742.2(ABCB11):c.764G>A;(p.G255E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.

Hepatology Communications
Pfister, Eva-Doreen ED; Jaeger, Veronika K VK; Karch, André A; Shay, Denys D; Schukfeh, Nagoud N; Ohlendorf, Johanna J; Junge, Norman N; Goldschmidt, Imeke I; Stalke, Amelie A; Keitel-Anselmino, Verena V; Baumann, Ulrich U
Publication Date: 2023-04-01

Variant appearance in text: ABCB11: 764G>A
PubMed Link: 36995996
Variant Present in the following documents:
  • Main text
  • hc9-7-e0092.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: ABCB11: 764G>A; G255E
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: ABCB11: 764G>A; G255E
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page