EGFR c.628+556A>G

Variant ID: 7-55219611-A-G

NM_005228.3(EGFR):c.628+556A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: 628+556A>G; rs2075112
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.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: rs2075112
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology
Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H
Publication Date: 2015-07

Variant appearance in text: rs2075112
PubMed Link: 25789707
Variant Present in the following documents:
  • NIHMS670893-supplement-01.pdf
View BVdb publication page



Epidermal growth factor receptor (EGFR) polymorphisms and breast cancer among Hispanic and non-Hispanic white women: the Breast Cancer Health Disparities Study.

International Journal Of Molecular Epidemiology And Genetics
Connor, Avonne E AE; Baumgartner, Richard N RN; Baumgartner, Kathy B KB; Pinkston, Christina M CM; John, Esther M EM; Torres-Mejía, Gabriela G; Hines, Lisa M LM; Giuliano, Anna R AR; Wolff, Roger K RK; Slattery, Martha L ML
Publication Date: 2013

Variant appearance in text: rs2075112
PubMed Link: 24319539
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in EGFR and ERBB4 increase susceptibility to cervical cancer.

Gynecologic Oncology
Ma, Duanduan D; Hovey, Raymond L RL; Zhang, Zhengyan Z; Fye, Samantha S; Huettner, Phyllis C PC; Borecki, Ingrid B IB; Rader, Janet S JS
Publication Date: 2013-11

Variant appearance in text: rs2075112
PubMed Link: 23927961
Variant Present in the following documents:
  • Main text
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2012-10-05

Variant appearance in text: rs2075112
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



Common variants in WFS1 confer risk of type 2 diabetes.

Nature Genetics
Sandhu, Manjinder S MS; Weedon, Michael N MN; Fawcett, Katherine A KA; Wasson, Jon J; Debenham, Sally L SL; Daly, Allan A; Lango, Hana H; Frayling, Timothy M TM; Neumann, Rosalind J RJ; Sherva, Richard R; Blech, Ilana I; Pharoah, Paul D PD; Palmer, Colin N A CN; Kimber, Charlotte C; Tavendale, Roger R; Morris, Andrew D AD; McCarthy, Mark I MI; Walker, Mark M; Hitman, Graham G; Glaser, Benjamin B; Permutt, M Alan MA; Hattersley, Andrew T AT; Wareham, Nicholas J NJ; Barroso, Inês I
Publication Date: 2007-08

Variant appearance in text: rs2075112
PubMed Link: 17603484
Variant Present in the following documents:
  • Main text
View BVdb publication page