PNKD c.97G>C ;(p.A33P)

Variant ID: 2-219136133-G-C

NM_015488.4(PNKD):c.97G>C;(p.A33P)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Preliminary study on pathogenic mechanism of first Chinese family with PNKD.

Translational Neuroscience
Chen, Feng F; Zhang, Shaohui S; Liu, Tinghong T; Yuan, Liu L; Wang, Yangshuo Y; Zhang, Guojun G; Liang, Shuli S
Publication Date: 2022-01-01

Variant appearance in text: PNKD: A33P
PubMed Link: 35795196
Variant Present in the following documents:
  • Main text
  • tnsci-2022-0222.pdf
View BVdb publication page



Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

International Journal Of Molecular Sciences
Garone, Giacomo G; Capuano, Alessandro A; Travaglini, Lorena L; Graziola, Federica F; Stregapede, Fabrizia F; Zanni, Ginevra G; Vigevano, Federico F; Bertini, Enrico E; Nicita, Francesco F
Publication Date: 2020-05-20

Variant appearance in text: PNKD: A33P
PubMed Link: 32443735
Variant Present in the following documents:
  • Main text
  • ijms-21-03603.pdf
View BVdb publication page



Genetic Variation Related to High Elevation Adaptation Revealed by Common Garden Experiments in Pinus yunnanensis.

Frontiers In Genetics
Sun, Yan-Qiang YQ; Zhao, Wei W; Xu, Chao-Qun CQ; Xu, Yulan Y; El-Kassaby, Yousry A YA; De La Torre, Amanda R AR; Mao, Jian-Feng JF
Publication Date: 2019

Variant appearance in text: BRP17: 97G>C
PubMed Link: 32117429
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: PNKD: A33P; rs121434513
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: rs121434513
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.

Molecular Psychiatry
Sun, N N; Nasello, C C; Deng, L L; Wang, N N; Zhang, Y Y; Xu, Z Z; Song, Z Z; Kwan, K K; King, R A RA; Pang, Z P ZP; Xing, J J; Heiman, G A GA; Tischfield, J A JA
Publication Date: 2018-06

Variant appearance in text: PNKD: A33P
PubMed Link: 28894297
Variant Present in the following documents:
  • Main text
  • nihms883218.pdf
View BVdb publication page



Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW
Publication Date: 2017-12

Variant appearance in text: PNKD: A33P; rs121434513
PubMed Link: 28471432
Variant Present in the following documents:
  • gim201750x2.xlsx, sheet 2
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: PNKD: A33P
PubMed Link: 26598494
Variant Present in the following documents:
  • Main text
  • awv310.pdf
View BVdb publication page



The genetics of dystonia: new twists in an old tale.

Brain : A Journal Of Neurology
Charlesworth, Gavin G; Bhatia, Kailash P KP; Wood, Nicholas W NW
Publication Date: 2013-07

Variant appearance in text: PNKD: Ala33Pro
PubMed Link: 23775978
Variant Present in the following documents:
  • Main text
  • awt138.pdf
View BVdb publication page



The genetics of dystonias.

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

Variant appearance in text: PNKD: A33P
PubMed Link: 22989765
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.

Human Molecular Genetics
Shen, Yiguo Y; Lee, Hsien-Yang HY; Rawson, Joel J; Ojha, Sunil S; Babbitt, Patricia P; Fu, Ying-Hui YH; Ptácek, Louis J LJ
Publication Date: 2011-06-15

Variant appearance in text: PNKD: A33P
PubMed Link: 21487022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations in Moloney Murine Leukemia Virus reverse transcriptase increase thermostability through tighter binding to template-primer.

Nucleic Acids Research
Arezi, Bahram B; Hogrefe, Holly H
Publication Date: 2009-02

Variant appearance in text: MR-1: a33P
PubMed Link: 19056821
Variant Present in the following documents:
  • gkn952.pdf
View BVdb publication page