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COQ8A c.973C>T ;(p.R325W)
Variant ID: 1-227170628-C-T
NM_020247.4(
COQ8A
):c.973C>T;(p.R325W)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.
Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13
Variant appearance in text: ADCK3: 973C>T
PubMed Link:
34255132
Variant Present in the following documents:
262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.
Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02
Variant appearance in text: ADCK3: 973C>T
PubMed Link:
34255132
Variant Present in the following documents:
262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: COQ8A: R325W
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Estimating the occurrence of primary ubiquinone deficiency by analysis of large-scale sequencing data.
Scientific Reports
Hughes, Bryan G BG; Harrison, Paul M PM; Hekimi, Siegfried S
Publication Date: 2017-12-18
Variant appearance in text: COQ8A: 973C>T; Arg325Trp
PubMed Link:
29255295
Variant Present in the following documents:
41598_2017_17564_MOESM1_ESM.xlsx, sheet 5
41598_2017_17564_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page