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IRAK4 c.*2188A>G
Variant ID: 12-44182706-A-G
NM_016123.3(
IRAK4
):c.*2188A>G
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs1141168
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22
Variant appearance in text: rs1141168
PubMed Link:
31640808
Variant Present in the following documents:
13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.
Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10
Variant appearance in text: rs1141168
PubMed Link:
29221171
Variant Present in the following documents:
oncotarget-08-95841-s002.xlsx, sheet 1
oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page
IRAK-4 Variants in acute coronary syndrome patients.
Anatolian Journal Of Cardiology
Ergen, Arzu A; Fazlıoğulları, Osman O; Başaran, Cem C; Çelik, Faruk F; Candan, Gonca G; Timirci Kahraman, Özlem Ö; Zeybek, Ümit Ü
Publication Date: 2017-05
Variant appearance in text: rs1141168
PubMed Link:
28529283
Variant Present in the following documents:
Main text
AJC-17-417a.pdf
View BVdb publication page
Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study.
Bmc Cancer
Resler, Alexa J AJ; Malone, Kathleen E KE; Johnson, Lisa G LG; Malkki, Mari M; Petersdorf, Effie W EW; McKnight, Barbara B; Madeleine, Margaret M MM
Publication Date: 2013-05-01
Variant appearance in text: rs1141168
PubMed Link:
23634849
Variant Present in the following documents:
View BVdb publication page