GC c.1249G>A ;(p.E417K)

Variant ID: 4-72620141-C-T

NM_000583.3(GC):c.1249G>A;(p.E417K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 1249G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Immunotherapy for bilateral multiple ground glass opacities: An exploratory study for synchronous multiple primary lung cancer.

Frontiers In Immunology
Xu, Lin L; Shi, Meiqi M; Wang, Siwei S; Li, Ming M; Yin, Wenda W; Zhang, Jingyuan J; Zhu, Jun J; Jiang, Feng F; Xia, Wenjia W; Qiu, Ninglei N; Zhang, Zhi Z; Huang, Jianfeng J; Ma, Zhifei Z; Meng, Fanchen F; Zhu, Hongyu H; Dong, Guozhang G; Wang, Jie J; Yin, Rong R
Publication Date: 2022

Variant appearance in text: GC: 1249G>A
PubMed Link: 36389707
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.

Cancers
Maillard, Maud M; Chevreau, Christine C; Le Louedec, Félicien F; Cassou, Manon M; Delmas, Caroline C; Gourdain, Laure L; Blay, Jean-Yves JY; Cupissol, Didier D; Bompas, Emmanuelle E; Italiano, Antoine A; Isambert, Nicolas N; Delcambre-Lair, Corinne C; Penel, Nicolas N; Bertucci, François F; Guillemet, Cécile C; Plenecassagnes, Julien J; Foulon, Stéphanie S; Chatelut, Étienne É; Le Cesne, Axel A; Thomas, Fabienne F
Publication Date: 2020-12-04

Variant appearance in text: GC: 1249G>A
PubMed Link: 33291741
Variant Present in the following documents:
  • cancers-12-03647-s001.pdf
View BVdb publication page



A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry
Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG
Publication Date: 2020-11-25

Variant appearance in text: GC: 1249G>A; Glu417Lys
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: GC: Glu417Lys
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: GC: E417K
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page