CACNA1A c.3040G>A ;(p.E1014K)

Variant ID: 19-13409407-C-T

NM_001127222.1(CACNA1A):c.3040G>A;(p.E1014K)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.

Molecular Neurobiology
Maksemous, Neven N; Harder, Aster V E AVE; Ibrahim, Omar O; Vijfhuizen, Lisanne S LS; Sutherland, Heidi H; Pelzer, Nadine N; de Boer, Irene I; Terwindt, Gisela M GM; Lea, Rodney A RA; van den Maagdenberg, Arn M J M AMJM; Griffiths, Lyn R LR
Publication Date: 2023-02-14

Variant appearance in text: rs16024
PubMed Link: 36786913
Variant Present in the following documents:
  • 12035_2023_3255_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: CACNA1A: E1014K
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies.

Frontiers In Molecular Neuroscience
Tyagi, Sidharth S; Ribera, Angeles B AB; Bannister, Roger A RA
Publication Date: 2019

Variant appearance in text: CACNA1A: E1014K
PubMed Link: 32116539
Variant Present in the following documents:
  • fnmol-12-00329.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: CACNA1A: E1014K; rs16024
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A mutation in CaV2.1 linked to a severe neurodevelopmental disorder impairs channel gating.

The Journal Of General Physiology
Tyagi, Sidharth S; Bendrick, Tyler R TR; Filipova, Dilyana D; Papadopoulos, Symeon S; Bannister, Roger A RA
Publication Date: 2019-06-03

Variant appearance in text: Cav2.1: E1014K
PubMed Link: 31015257
Variant Present in the following documents:
  • JGP_201812237.pdf
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: CACNA1A: E1014K
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 3
  • mmc6.xlsx, sheet 2
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: CACNA1A: E1014K; rs16024
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Publication Date: 2018-07-03

Variant appearance in text: rs16024
PubMed Link: 29970176
Variant Present in the following documents:
  • 40246_2018_167_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: CACNA1A: E1014K; rs16024
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs16024
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.

The Journal Of Biological Chemistry
Condliffe, Steven B SB; Fratangeli, Alessandra A; Munasinghe, Nehan R NR; Saba, Elena E; Passafaro, Maria M; Montrasio, Cristina C; Ferrari, Maurizio M; Rosa, Patrizia P; Carrera, Paola P
Publication Date: 2013-11-22

Variant appearance in text: rs16024
PubMed Link: 24108129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

The Journal Of Physiology
Rajakulendran, Sanjeev S; Graves, Tracey D TD; Labrum, Robyn W RW; Kotzadimitriou, Dimitrios D; Eunson, Louise L; Davis, Mary B MB; Davies, Rosalyn R; Wood, Nicholas W NW; Kullmann, Dimitri M DM; Hanna, Michael G MG; Schorge, Stephanie S
Publication Date: 2010-06-01

Variant appearance in text: rs16024
PubMed Link: 20156848
Variant Present in the following documents:
  • Main text
View BVdb publication page