RYR2 c.556G>A ;(p.V186M)

Variant ID: 1-237540715-G-A

NM_001035.2(RYR2):c.556G>A;(p.V186M)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Correction: "Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease
Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC
Publication Date: 2022-11-30

Variant appearance in text: RYR2: V186M
PubMed Link: 36450727
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_5468.pdf
View BVdb publication page



The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: RYR2: 556G>A; Val186Met; rs201211033
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: RYR2: V186M
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: RYR2: V186M
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease
Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC
Publication Date: 2021-11-01

Variant appearance in text: RYR2: V186M
PubMed Link: 34725342
Variant Present in the following documents:
  • Main text
  • 41419_2021_Article_4337.pdf
View BVdb publication page



"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Cell Death & Disease
Sleiman, Yvonne Y; Lacampagne, Alain A; Meli, Albano C AC
Publication Date: 2021-11-01

Variant appearance in text: RYR2: V186M
PubMed Link: 34725342
Variant Present in the following documents:
  • Main text
  • 41419_2021_Article_4337.pdf
View BVdb publication page



Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.

Molecules (Basel, Switzerland)
Bauerová-Hlinková, Vladena V; Hajdúchová, Dominika D; Bauer, Jacob A JA
Publication Date: 2020-09-04

Variant appearance in text: RYR2: V186M
PubMed Link: 32899693
Variant Present in the following documents:
  • Main text
  • molecules-25-04040.pdf
View BVdb publication page



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: RYR2: 556G>A; rs201211033
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



In Vivo Ryr2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia.

Circulation Research
Pan, Xiaolu X; Philippen, Leonne L; Lahiri, Satadru K SK; Lee, Ciaran C; Park, So Hyun SH; Word, Tarah A TA; Li, Na N; Jarrett, Kelsey E KE; Gupta, Rajat R; Reynolds, Julia O JO; Lin, Jean J; Bao, Gang G; Lagor, William R WR; Wehrens, Xander H T XHT
Publication Date: 2018-09-28

Variant appearance in text: RYR2: V186M
PubMed Link: 30355031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RYR2: 556G>A; Val186Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: RYR2: V186M
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias.

Acta Crystallographica. Section D, Biological Crystallography
Borko, Lubomír L; Bauerová-Hlinková, Vladena V; Hostinová, Eva E; Gašperík, Juraj J; Beck, Konrad K; Lai, F Anthony FA; Zahradníková, Alexandra A; Sevčík, Jozef J
Publication Date: 2014-11

Variant appearance in text: ARVD2: V186M
PubMed Link: 25372681
Variant Present in the following documents:
  • Main text
  • d-70-02897-sup1.pdf
  • d-70-02897.pdf
View BVdb publication page



The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Journal Of The American College Of Cardiology
Medeiros-Domingo, Argelia A; Bhuiyan, Zahurul A ZA; Tester, David J DJ; Hofman, Nynke N; Bikker, Hennie H; van Tintelen, J Peter JP; Mannens, Marcel M A M MM; Wilde, Arthur A M AA; Ackerman, Michael J MJ
Publication Date: 2009-11-24

Variant appearance in text: RYR2: V186M
PubMed Link: 19926015
Variant Present in the following documents:
  • Main text
View BVdb publication page