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CACNA1H c.1943C>T ;(p.P648L)
Variant ID: 16-1252393-C-T
NM_021098.2(
CACNA1H
):c.1943C>T;(p.P648L)
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Calcium and activity-dependent signaling in the developing cerebral cortex.
Development (Cambridge, England)
Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G
Publication Date: 2022-09-01
Variant appearance in text: Cav3.2: P648L
PubMed Link:
36102617
Variant Present in the following documents:
develop-149-198853-s1.pdf
View BVdb publication page
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09
Variant appearance in text: CACNA1H: 1943C>T; Pro648Leu
PubMed Link:
32355288
Variant Present in the following documents:
41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page
CACNA1H variants are not a cause of monogenic epilepsy.
Human Mutation
Calhoun, Jeffrey D JD; Huffman, Alexandra M AM; Bellinski, Irena I; Kinsley, Lisa L; Bachman, Elizabeth E; Gerard, Elizabeth E; Kearney, Jennifer A JA; Carvill, Gemma L GL
Publication Date: 2020-06
Variant appearance in text: CACNA1H: 1943C>T
PubMed Link:
32227660
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic T-type calcium channelopathies.
Journal Of Medical Genetics
Weiss, Norbert N; Zamponi, Gerald W GW
Publication Date: 2020-01
Variant appearance in text: CACNA1H: P648L
PubMed Link:
31217264
Variant Present in the following documents:
Main text
jmedgenet-2019-106163.pdf
View BVdb publication page
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08
Variant appearance in text: CACNA1H: P648L
PubMed Link:
28488083
Variant Present in the following documents:
Main text
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: CACNA1H: P648L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Characterization of the gating brake in the I-II loop of CaV3 T-type calcium channels.
Channels (Austin, Tex.)
Perez-Reyes, Edward E
Publication Date: 2010
Variant appearance in text: CACNA1H: P648L
PubMed Link:
21099341
Variant Present in the following documents:
Main text
View BVdb publication page
The I-II loop controls plasma membrane expression and gating of Ca(v)3.2 T-type Ca2+ channels: a paradigm for childhood absence epilepsy mutations.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Vitko, Iuliia I; Bidaud, Isabelle I; Arias, Juan Manuel JM; Mezghrani, Alexandre A; Lory, Philippe P; Perez-Reyes, Edward E
Publication Date: 2007-01-10
Variant appearance in text: CACNA1H: P648L
PubMed Link:
17215393
Variant Present in the following documents:
Main text
View BVdb publication page
Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Vitko, Iuliia I; Chen, Yucai Y; Arias, Juan M JM; Shen, Yen Y; Wu, Xi-Ru XR; Perez-Reyes, Edward E
Publication Date: 2005-05-11
Variant appearance in text: CACNA1H: P648L
PubMed Link:
15888660
Variant Present in the following documents:
Main text
View BVdb publication page