PRRT2 c.913G>T ;(p.G305W)

Variant ID: 16-29825687-G-T

NM_145239.2(PRRT2):c.913G>T;(p.G305W)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PRRT2: G305W; rs767799831
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Beyond the AMPA receptor: Diverse roles of SynDIG/PRRT brain-specific transmembrane proteins at excitatory synapses.

Current Opinion In Pharmacology
Dίaz, Elva E
Publication Date: 2021-06

Variant appearance in text: PRRT2: G305W
PubMed Link: 33964729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Cns Neuroscience & Therapeutics
Zhao, Shao-Yun SY; Li, Li-Xi LX; Chen, Yu-Lan YL; Chen, Yi-Jun YJ; Liu, Gong-Lu GL; Dong, Hai-Lin HL; Chen, Dian-Fu DF; Li, Hong-Fu HF; Wu, Zhi-Ying ZY
Publication Date: 2020-01

Variant appearance in text: ICCA: 913G>T
PubMed Link: 31124310
Variant Present in the following documents:
  • Main text
  • CNS-26-39.pdf
View BVdb publication page



A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.

Movement Disorders Clinical Practice
Kita, Makoto M; Kuwata, Yasuhiro Y; Murase, Nagako N; Akiyama, Yuichi Y; Usui, Takeshi T
Publication Date: 2017

Variant appearance in text: PRRT2: G305W
PubMed Link: 30713971
Variant Present in the following documents:
  • Main text
View BVdb publication page



PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.

Cell Reports
Coleman, Jeff J; Jouannot, Ouardane O; Ramakrishnan, Sathish K SK; Zanetti, Maria N MN; Wang, Jing J; Salpietro, Vincenzo V; Houlden, Henry H; Rothman, James E JE; Krishnakumar, Shyam S SS
Publication Date: 2018-01-16

Variant appearance in text: PRRT2: G305W
PubMed Link: 29346777
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.pdf
View BVdb publication page



The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain : A Journal Of Neurology
Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H
Publication Date: 2015-12

Variant appearance in text: PKC: G305W
PubMed Link: 26598494
Variant Present in the following documents:
  • Main text
  • awv310.pdf
View BVdb publication page



PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Neurology
Gardiner, Alice R AR; Bhatia, Kailash P KP; Stamelou, Maria M; Dale, Russell C RC; Kurian, Manju A MA; Schneider, Susanne A SA; Wali, G M GM; Counihan, Tim T; Schapira, Anthony H AH; Spacey, Sian D SD; Valente, Enza-Maria EM; Silveira-Moriyama, Laura L; Teive, Hélio A G HA; Raskin, Salmo S; Sander, Josemir W JW; Lees, Andrew A; Warner, Tom T; Kullmann, Dimitri M DM; Wood, Nicholas W NW; Hanna, Michael M; Houlden, Henry H
Publication Date: 2012-11-20

Variant appearance in text: PRRT2: G305W
PubMed Link: 23077024
Variant Present in the following documents:
  • Main text
View BVdb publication page