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CYBB c.127_128delinsCA ;(p.R43Q)
Variant ID: X-37641422-AG-CA
NM_000397.3(
CYBB
):c.127_128delinsCA;(p.R43Q)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Integrative analysis of multi-omics data reveals the heterogeneity and signatures of immune therapy for small cell lung cancer.
Clinical And Translational Medicine
Chen, Yabin Y; Fang, Zhaoyuan Z; Tang, Ying Y; Jin, Yujuan Y; Guo, Chenchen C; Hu, Liang L; Xu, Yang Y; Ma, Xidong X; Gao, Jie J; Xie, Mei M; Zang, Xuelei X; Liu, Sanhong S; Chen, Haiquan H; Thomas, Roman K RK; Xue, Xinying X; Ji, Hongbin H; Chen, Luonan L
Publication Date: 2021-12
Variant appearance in text: CYBB: R43Q
PubMed Link:
34923768
Variant Present in the following documents:
CTM2-11-e620-s006.xlsx, sheet 2
View BVdb publication page
Binding of the PX domain of p47(phox) to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid is masked by an intramolecular interaction.
The Embo Journal
Karathanassis, Dimitrios D; Stahelin, Robert V RV; Bravo, Jerónimo J; Perisic, Olga O; Pacold, Christine M CM; Cho, Wonhwa W; Williams, Roger L RL
Publication Date: 2002-10-01
Variant appearance in text: CGD: R43Q
PubMed Link:
12356722
Variant Present in the following documents:
Main text
View BVdb publication page