CYP2D6 c.1009G>A ;(p.D337N)

Variant ID: 22-42523613-C-T

NM_000106.5(CYP2D6):c.1009G>A;(p.D337N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: CYP2D6: 1009G>A; D337N
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: CYP2D6: 1009G>A; Asp337Asn
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: CYP2D6: 1009G>A; D337N; rs78209835
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: CYP2D6: 1009G>A; D337N; rs78209835
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Identification of NCAN as a candidate gene for developmental dyslexia.

Scientific Reports
Einarsdottir, Elisabet E; Peyrard-Janvid, Myriam M; Darki, Fahimeh F; Tuulari, Jetro J JJ; Merisaari, Harri H; Karlsson, Linnea L; Scheinin, Noora M NM; Saunavaara, Jani J; Parkkola, Riitta R; Kantojärvi, Katri K; Ämmälä, Antti-Jussi AJ; Yiu-Lin Yu, Nancy N; Matsson, Hans H; Nopola-Hemmi, Jaana J; Karlsson, Hasse H; Paunio, Tiina T; Klingberg, Torkel T; Leinonen, Eira E; Kere, Juha J
Publication Date: 2017-08-24

Variant appearance in text: CYP2D6: D337N; rs78209835
PubMed Link: 28839234
Variant Present in the following documents:
  • 41598_2017_10175_MOESM4_ESM.xls, sheet 1
View BVdb publication page



Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Human Mutation
Buermans, Henk P J HP; Vossen, Rolf H A M RH; Anvar, Seyed Yahya SY; Allard, William G WG; Guchelaar, Henk-Jan HJ; White, Stefan J SJ; den Dunnen, Johan T JT; Swen, Jesse J JJ; van der Straaten, Tahar T
Publication Date: 2017-03

Variant appearance in text: CYP2D6: Asp337Asn; rs78209835
PubMed Link: 28044414
Variant Present in the following documents:
  • Main text
  • HUMU-38-310.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: CYP2D6: D337N
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page