Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CACNA1H: 844G>A; Glu282Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: E282K

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

View BVdb publication page

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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: 844G>A; Glu282Lys; rs119454948

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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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: 844G>A

PubMed Link: 32227660

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E282K

PubMed Link: 31217264

Variant Present in the following documents:

• Main text

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Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications

Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G

Publication Date: 2017-11-23

Variant appearance in text: CACNA1H: 844G>A; E282K

PubMed Link: 29170503

Variant Present in the following documents:

• 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: E282K

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: E282K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: E282K

PubMed Link: 15888660

Variant Present in the following documents:

• Main text

View BVdb publication page

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