EGFR c.1283G>A ;(p.G428D)

Variant ID: 7-55225431-G-A

NM_005228.3(EGFR):c.1283G>A;(p.G428D)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: EGFR: 1283G>A; Gly428Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: EGFR: G428D
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 4
View BVdb publication page



The genetics of monogenic intestinal epithelial disorders.

Human Genetics
Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR
Publication Date: 2022-11-23

Variant appearance in text: EGFR: Gly428Asp
PubMed Link: 36422736
Variant Present in the following documents:
  • Main text
  • 439_2022_Article_2501.pdf
View BVdb publication page



Hereditary kidney diseases associated with hypomagnesemia.

Kidney Research And Clinical Practice
Claverie-Martin, Felix F; Perdomo-Ramirez, Ana A; Garcia-Nieto, Victor V
Publication Date: 2021-11-12

Variant appearance in text: EGFR: Gly428Asp
PubMed Link: 34784661
Variant Present in the following documents:
  • Main text
  • j-krcp-21-112.pdf
View BVdb publication page



Hereditary kidney diseases associated with hypomagnesemia.

Kidney Research And Clinical Practice
Claverie-Martin, Felix F; Perdomo-Ramirez, Ana A; Garcia-Nieto, Victor V
Publication Date: 2021-12

Variant appearance in text: EGFR: Gly428Asp
PubMed Link: 34784661
Variant Present in the following documents:
  • Main text
  • j-krcp-21-112.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: EGFR: G428D
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Spatial activation of ezrin by epidermal growth factor receptor and focal adhesion kinase co-ordinates epithelial cell migration.

Open Biology
Chan, Grace K GK; McGrath, John A JA; Parsons, Maddy M
Publication Date: 2021-08

Variant appearance in text: EGFR: G428D
PubMed Link: 34375550
Variant Present in the following documents:
  • Main text
  • rsob.210166.pdf
View BVdb publication page



Spatial activation of ezrin by epidermal growth factor receptor and focal adhesion kinase co-ordinates epithelial cell migration.

Open Biology
Chan, Grace K GK; McGrath, John A JA; Parsons, Maddy M
Publication Date: 2021-08

Variant appearance in text: EGFR: G428D
PubMed Link: 34375550
Variant Present in the following documents:
  • Main text
  • rsob.210166.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: EGFR: G428D
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: EGFR: G428D
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: EGFR: 1283G>A; Gly428Asp; rs606231253
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: EGFR: G428D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: EGFR: 1283G>A; Gly428Asp
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 4
View BVdb publication page



Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.

Human Genome Variation
Hayashi, Shion S; Yokoi, Takayuki T; Hatano, Chihiro C; Enomoto, Yumi Y; Tsurusaki, Yoshinori Y; Naruto, Takuya T; Kobayashi, Masahisa M; Ida, Hiroyuki H; Kurosawa, Kenji K
Publication Date: 2018

Variant appearance in text: EGFR: 1283G>A; Gly428Asp
PubMed Link: 29899996
Variant Present in the following documents:
  • Main text
  • 41439_2018_Article_11.pdf
View BVdb publication page



Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: EGFR: G428D
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.

Molecular Genetics & Genomic Medicine
Ganetzky, Rebecca R; Finn, Erin E; Bagchi, Atrish A; Zollo, Ornella O; Conlin, Laura L; Deardorff, Matthew M; Harr, Margaret M; Simpson, Michael A MA; McGrath, John A JA; Zackai, Elaine E; Lemmon, Mark A MA; Sondheimer, Neal N
Publication Date: 2015-09

Variant appearance in text: EGFR: 1283G>A; Gly428Asp
PubMed Link: 26436111
Variant Present in the following documents:
  • Main text
  • mgg30003-0452.pdf
View BVdb publication page



Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

The Journal Of Investigative Dermatology
Campbell, Patrick P; Morton, Penny E PE; Takeichi, Takuya T; Salam, Amr A; Roberts, Nerys N; Proudfoot, Laura E LE; Mellerio, Jemima E JE; Aminu, Kingi K; Wellington, Cheryl C; Patil, Sachin N SN; Akiyama, Masashi M; Liu, Lu L; McMillan, James R JR; Aristodemou, Sophia S; Ishida-Yamamoto, Akemi A; Abdul-Wahab, Alya A; Petrof, Gabriela G; Fong, Kenneth K; Harnchoowong, Sarawin S; Stone, Kristina L KL; Harper, John I JI; Irwin McLean, W H WH; Simpson, Michael A MA; Parsons, Maddy M; McGrath, John A JA
Publication Date: 2014-10

Variant appearance in text: EGFR: 1283G>A; Gly428Asp
PubMed Link: 24691054
Variant Present in the following documents:
  • Main text
  • emss-57794.pdf
View BVdb publication page