PRRT2 c.913G>A ;(p.G305R)

Variant ID: 16-29825687-G-A

NM_145239.2(PRRT2):c.913G>A;(p.G305R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: PRRT2: 913G>A; Gly305Arg
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: PRRT2: 913G>A; G305R; rs767799831
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies.

Epilepsy & Behavior Case Reports
El Achkar, Christelle Moufawad CM; Rosen Sheidley, Beth B; O'Rourke, Declan D; Takeoka, Masanori M; Poduri, Annapurna A
Publication Date: 2019

Variant appearance in text: PRRT2: 913G>A
PubMed Link: 31193310
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>A
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: N/A
PubMed Link: 30713971
Variant Present in the following documents:
View BVdb publication page



Paroxysmal Dyskinesia in Children: from Genes to the Clinic.

Journal Of Clinical Neurology (Seoul, Korea)
Kim, Soo Yeon SY; Lee, Jin Sook JS; Kim, Woo Joong WJ; Kim, Hyuna H; Choi, Sun Ah SA; Lim, Byung Chan BC; Kim, Ki Joong KJ; Chae, Jong Hee JH
Publication Date: 2018-10

Variant appearance in text: PRRT2: 913G>A; Gly305Arg
PubMed Link: 30198221
Variant Present in the following documents:
  • Main text
  • jcn-14-492.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PRRT2: G305R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PRRT2: G305R
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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: PRRT2: G305R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



The genetics of dystonias.

Advances In Genetics
LeDoux, Mark S MS
Publication Date: 2012

Variant appearance in text: PRRT2: 913G>A
PubMed Link: 22989765
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

Bmc Neurology
Hedera, Peter P; Xiao, Jianfeng J; Puschmann, Andreas A; Momčilović, Dragana D; Wu, Steve W SW; LeDoux, Mark S MS
Publication Date: 2012-09-18

Variant appearance in text: PRRT2: 913G>A
PubMed Link: 22985072
Variant Present in the following documents:
  • Main text
  • 1471-2377-12-93.pdf
View BVdb publication page



Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.

Neurology
Friedman, Jennifer J; Olvera, Jesus J; Silhavy, Jennifer L JL; Gabriel, Stacey B SB; Gleeson, Joseph G JG
Publication Date: 2012-08-28

Variant appearance in text: PRRT2: 913G>A; Gly305Arg
PubMed Link: 22895590
Variant Present in the following documents:
  • Main text
View BVdb publication page