PDYN c.635G>A ;(p.R212Q)

Variant ID: 20-1961099-C-T

NM_024411.4(PDYN):c.635G>A;(p.R212Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Frontiers In Genetics
Ghorbani, Fatemeh F; Alimohamed, Mohamed Z MZ; Vilacha, Juliana F JF; Van Dijk, Krista K KK; De Boer-Bergsma, Jelkje J; Fokkens, Michiel R MR; Lemmink, Henny H; Sijmons, Rolf H RH; Sikkema-Raddatz, Birgit B; Groves, Matthew R MR; Verschuuren-Bemelmans, Corien C CC; Verbeek, Dineke S DS; Van Diemen, Cleo C CC; Westers, Helga H
Publication Date: 2022

Variant appearance in text: PDYN: 635G>A; R212Q
PubMed Link: 35401678
Variant Present in the following documents:
  • Main text
  • fgene-13-782685.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: PDYN: 635G>A; Arg212Gln
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: PDYN: Arg212Gln
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: PDYN: 635G>A; R212Q; rs138498390
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: PDYN: R212Q
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: PDYN: R212Q
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)
Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS
Publication Date: 2015-09-16

Variant appearance in text: rs138498390
PubMed Link: 26384369
Variant Present in the following documents:
  • supp_g3.115.021345_TableS1.xlsx, sheet 1
View BVdb publication page



Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Genome Medicine
Ryland, Georgina L GL; Hunter, Sally M SM; Doyle, Maria A MA; Caramia, Franco F; Li, Jason J; Rowley, Simone M SM; Christie, Michael M; Allan, Prue E PE; Stephens, Andrew N AN; Bowtell, David D L DD; , ; Campbell, Ian G IG; Gorringe, Kylie L KL
Publication Date: 2015

Variant appearance in text: PDYN: 635G>A; Arg212Gln
PubMed Link: 26257827
Variant Present in the following documents:
  • 13073_2015_210_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21

Variant appearance in text: PDYN: R212Q; rs138498390
PubMed Link: 26062443
Variant Present in the following documents:
  • oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page