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MUC16 c.38655G>T ;(p.R12885=)
Variant ID: 19-9012789-C-A
NM_024690.2(
MUC16
):c.38655G>T;(p.R12885=)
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:
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04
Variant appearance in text: MUC16: R12885R
PubMed Link:
35246273
Variant Present in the following documents:
40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Common Postzygotic Mutational Signatures in Healthy Adult Tissues Related to Embryonic Hypoxia.
Genomics, Proteomics & Bioinformatics
Hong, Yaqiang Y; Zhang, Dake D; Zhou, Xiangtian X; Chen, Aili A; Abliz, Amir A; Bai, Jian J; Wang, Liang L; Hu, Qingtao Q; Gong, Kenan K; Guan, Xiaonan X; Liu, Mengfei M; Zheng, Xinchang X; Lai, Shujuan S; Qu, Hongzhu H; Zhao, Fuxin F; Hao, Shuang S; Wu, Zhen Z; Cai, Hong H; Hu, Shaoyan S; Ma, Yue Y; Zhang, Junting J; Ke, Yang Y; Wang, Qian-Fei QF; Chen, Wei W; Zeng, Changqing C
Publication Date: 2022-02
Variant appearance in text: MUC16: Arg12885=
PubMed Link:
34624550
Variant Present in the following documents:
main.pdf
View BVdb publication page
Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.
Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09
Variant appearance in text: MUC16: R12885R
PubMed Link:
32529721
Variant Present in the following documents:
JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page