APOB c.3164G>A ;(p.R1055Q)

Variant ID: 2-21239479-C-T

NM_000384.2(APOB):c.3164G>A;(p.R1055Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: APOB: R1055Q; rs939540692
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Tumor RNA transfected DCs derived from iPS cells elicit cytotoxicity against cancer cells induced from colorectal cancer patients in vitro.

Scientific Reports
Maruoka, Shimpei S; Ojima, Toshiyasu T; Iwamoto, Hiromitsu H; Kitadani, Junya J; Tabata, Hirotaka H; Tominaga, Shinta S; Katsuda, Masahiro M; Hayata, Keiji K; Takeuchi, Akihiro A; Yamaue, Hiroki H
Publication Date: 2022-02-28

Variant appearance in text: APOB: R1055Q
PubMed Link: 35228610
Variant Present in the following documents:
  • 41598_2022_7305_MOESM4_ESM.xlsx, sheet 1
  • 41598_2022_7305_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Multi-omic machine learning predictor of breast cancer therapy response.

Nature
Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C
Publication Date: 2022-01

Variant appearance in text: APOB: 3164G>A
PubMed Link: 34875674
Variant Present in the following documents:
  • 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page