EGFR c.748-49G>A

Variant ID: 7-55221655-G-A

NM_005228.3(EGFR):c.748-49G>A

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4947986
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Epidermal Growth Factor Receptor (EGFR) Gene Polymorphism May be a Modifier for Cadmium Kidney Toxicity.

Genes
Lin, Chun-Ting CT; Chen, Ting-Hao TH; Yang, Chen-Cheng CC; Luo, Kuei-Hau KH; Chen, Tzu-Hua TH; Chuang, Hung-Yi HY
Publication Date: 2021-10-02

Variant appearance in text: rs4947986
PubMed Link: 34680968
Variant Present in the following documents:
  • Main text
  • genes-12-01573.pdf
View BVdb publication page



The Association of Renal Function and Plasma Metals Modified by EGFR and TNF-α Gene Polymorphisms in Metal Industrial Workers and General Population.

International Journal Of Environmental Research And Public Health
Chen, Tzu-Hua TH; Huang, Joh-Jong JJ; Lee, Hsiang-Ying HY; Kung, Wei-Shyang WS; Luo, Kuei-Hau KH; Lu, Jia-Yi JY; Chuang, Hung-Yi HY
Publication Date: 2021-08-25

Variant appearance in text: rs4947986
PubMed Link: 34501555
Variant Present in the following documents:
  • Main text
  • ijerph-18-08965.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: EGFR: 748-49G>A; rs4947986
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The EGFR Polymorphism Increased the Risk of Hepatocellular Carcinoma Through the miR-3196-Dependent Approach in Chinese Han Population.

Pharmacogenomics And Personalized Medicine
Zhang, Li L; Li, Xiaoping X; Lu, Jiang J; Qian, Yi Y; Qian, Tao T; Wu, Xing X; Xu, Qinghua Q
Publication Date: 2021

Variant appearance in text: rs4947986
PubMed Link: 33935511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: EGFR: 748-49G>A; rs4947986
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs4947986
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: EGFR: 748-49G>A; rs4947986
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs4947986
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: EGFR: 748-49G>A; rs4947986
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4947986
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4947986
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Common genetic variations in cell cycle and DNA repair pathways associated with pediatric brain tumor susceptibility.

Oncotarget
Adel Fahmideh, Maral M; Lavebratt, Catharina C; Schüz, Joachim J; Röösli, Martin M; Tynes, Tore T; Grotzer, Michael A MA; Johansen, Christoffer C; Kuehni, Claudia E CE; Lannering, Birgitta B; Prochazka, Michaela M; Schmidt, Lisbeth S LS; Feychting, Maria M
Publication Date: 2016-09-27

Variant appearance in text: rs4947986
PubMed Link: 27613841
Variant Present in the following documents:
  • Main text
  • oncotarget-07-63640.pdf
View BVdb publication page



Pre-diagnostic serum levels of EGFR and ErbB2 and genetic glioma risk variants: a nested case-control study.

Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine
Späth, Florentin F; Andersson, Ulrika U; Dahlin, Anna M AM; Langseth, Hilde H; Hovig, Eivind E; Johannesen, Tom Børge TB; Grankvist, Kjell K; Björkblom, Benny B; Wibom, Carl C; Melin, Beatrice B
Publication Date: 2016-08

Variant appearance in text: rs4947986
PubMed Link: 26906551
Variant Present in the following documents:
  • Main text
  • 13277_2015_Article_4742.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs4947986
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Computational dissection of human episodic memory reveals mental process-specific genetic profiles.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Luksys, Gediminas G; Fastenrath, Matthias M; Coynel, David D; Freytag, Virginie V; Gschwind, Leo L; Heck, Angela A; Jessen, Frank F; Maier, Wolfgang W; Milnik, Annette A; Riedel-Heller, Steffi G SG; Scherer, Martin M; Spalek, Klara K; Vogler, Christian C; Wagner, Michael M; Wolfsgruber, Steffen S; Papassotiropoulos, Andreas A; de Quervain, Dominique J-F DJ
Publication Date: 2015-09-01

Variant appearance in text: rs4947986
PubMed Link: 26261317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in insulin-induced kinase signaling.

Molecular Systems Biology
Wang, Isabel Xiaorong IX; Ramrattan, Girish G; Cheung, Vivian G VG
Publication Date: 2015-07-22

Variant appearance in text: rs4947986
PubMed Link: 26202599
Variant Present in the following documents:
  • Main text
  • msb0011-0820.pdf
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs4947986
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Comprehensive analysis of the association of EGFR, CALM3 and SMARCD1 gene polymorphisms with BMD in Caucasian women.

Plos One
Zhou, Qiu-Hong QH; Zhao, Lan-Juan LJ; Wang, Ping P; Badr, Rhamee R; Xu, Xiao-Jing XJ; Bu, Feng-Xiao FX; Lappe, Joan J; Recker, Robert R; Zhou, Yu Y; Ye, An A; Zhou, Bo-Ting BT
Publication Date: 2014

Variant appearance in text: rs4947986
PubMed Link: 25396734
Variant Present in the following documents:
  • Main text
  • pone.0112358.pdf
View BVdb publication page



Impact of genetic polymorphisms on adenoma recurrence and toxicity in a COX2 inhibitor (celecoxib) trial: results from a pilot study.

Pharmacogenetics And Genomics
Kraus, Sarah S; Hummler, Simone S; Toriola, Adetunji T AT; Poole, Elizabeth M EM; Scherer, Dominique D; Kotzmann, Jana J; Makar, Karen W KW; Kazanov, Dina D; Galazan, Lior L; Naumov, Inna I; Coghill, Anna E AE; Duggan, David D; Gigic, Biljana B; Arber, Nadir N; Ulrich, Cornelia M CM
Publication Date: 2013-08

Variant appearance in text: rs4947986
PubMed Link: 23778325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in EGF and EGFR and glioblastoma outcome.

Neuro-Oncology
Sjöström, Sara S; Andersson, Ulrika U; Liu, Yanhong Y; Brännström, Thomas T; Broholm, Helle H; Johansen, Christoffer C; Collatz-Laier, Helle H; Henriksson, Roger R; Bondy, Melissa M; Melin, Beatrice B
Publication Date: 2010-08

Variant appearance in text: rs4947986
PubMed Link: 20197289
Variant Present in the following documents:
  • Main text
  • noq018.pdf
View BVdb publication page