EGFR c.748-257C>G

Variant ID: 7-55221447-C-G

NM_005228.3(EGFR):c.748-257C>G

This variant was identified in 6 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: rs12718946
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: 748-257C>G; rs12718946
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.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: rs12718946
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Associations between RNA splicing regulatory variants of stemness-related genes and racial disparities in susceptibility to prostate cancer.

International Journal Of Cancer
Wang, Yanru Y; Freedman, Jennifer A JA; Liu, Hongliang H; Moorman, Patricia G PG; Hyslop, Terry T; George, Daniel J DJ; Lee, Norman H NH; Patierno, Steven R SR; Wei, Qingyi Q
Publication Date: 2017-08-15

Variant appearance in text: rs12718946
PubMed Link: 28510291
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants in human papillomavirus receptor and associated genes are associated with type-specific HPV infection and lesion progression of the cervix.

Oncotarget
Zou, Jian J; Cao, Zhu Z; Zhang, Jianyang J; Chen, Tingting T; Yang, Shizhou S; Huang, Yongjie Y; Hong, Die D; Li, Yang Y; Chen, Xiaojing X; Wang, Xinyu X; Cheng, Xiaodong X; Lu, Weiguo W; Xie, Xing X
Publication Date: 2016-06-28

Variant appearance in text: rs12718946
PubMed Link: 27223085
Variant Present in the following documents:
  • Main text
  • oncotarget-07-40135.pdf
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: rs12718946
PubMed Link: 25789707
Variant Present in the following documents:
  • NIHMS670893-supplement-01.pdf
View BVdb publication page