APOB c.2258G>A ;(p.G753E)

Variant ID: 2-21247983-C-T

NM_000384.2(APOB):c.2258G>A;(p.G753E)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: APOB: 2258G>A; G753E; rs148502464
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.

Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05

Variant appearance in text: rs148502464
PubMed Link: 32457125
Variant Present in the following documents:
  • jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page



Unveiling a sudden unexplained death case by whole exome sequencing and bioinformatic analysis.

Molecular Genetics & Genomic Medicine
Modena, Martina M; Castiglione, Vincenzo V; Aretini, Paolo P; Mazzanti, Chiara M CM; Chiti, Enrica E; Giannoni, Alberto A; Emdin, Michele M; Di Paolo, Marco M
Publication Date: 2020-04

Variant appearance in text: APOB: 2258G>A; rs148502464
PubMed Link: 32101375
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1182.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: APOB: 2258G>A; Gly753Glu
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Doher, Nicholas N; Gupta, Harsh V HV
Publication Date: 2019

Variant appearance in text: APOB: G753E
PubMed Link: 31824748
Variant Present in the following documents:
  • tre-09-739-s003.xlsx, sheet 3
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: rs148502464
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page



Identification of metastasis driver genes by massive parallel sequencing of successive steps of breast cancer progression.

Plos One
Krøigård, Anne Bruun AB; Larsen, Martin Jakob MJ; Lænkholm, Anne-Vibeke AV; Knoop, Ann S AS; Jensen, Jeanette Dupont JD; Bak, Martin M; Mollenhauer, Jan J; Thomassen, Mads M; Kruse, Torben A TA
Publication Date: 2018

Variant appearance in text: APOB: 2258G>A
PubMed Link: 29293529
Variant Present in the following documents:
  • pone.0189887.s005.xlsx, sheet 1
View BVdb publication page