EPDR1 c.417C>G ;(p.I139M)

Variant ID: 7-37988589-C-G

NM_017549.4(EPDR1):c.417C>G;(p.I139M)

This variant was identified in 8 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: rs2044831
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research
Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,
Publication Date: 2022-01-31

Variant appearance in text: rs2044831
PubMed Link: 35101137
Variant Present in the following documents:
  • 40001_2022_638_MOESM1_ESM.pdf
View BVdb publication page



Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer.

European Journal Of Medical Research
Rosenberger, Albert A; Muttray, Nils N; Hung, Rayjean J RJ; Christiani, David C DC; Caporaso, Neil E NE; Liu, Geoffrey G; Bojesen, Stig E SE; Le Marchand, Loic L; Albanes, Demetrios D; Aldrich, Melinda C MC; Tardon, Adonina A; Fernández-Tardón, Guillermo G; Rennert, Gad G; Field, John K JK; Davies, Michael P A MPA; Liloglou, Triantafillos T; Kiemeney, Lambertus A LA; Lazarus, Philip P; Wendel, Bernadette B; Haugen, Aage A; Zienolddiny, Shanbeh S; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Duell, Eric J EJ; Arnold, Susanne M SM; Goodman, Gary E GE; Chen, Chu C; Doherty, Jennifer A JA; Taylor, Fiona F; Cox, Angela A; Woll, Penella J PJ; Risch, Angela A; Muley, Thomas R TR; Johansson, Mikael M; Brennan, Paul P; Landi, Maria Teresa MT; Shete, Sanjay S SS; Amos, Christopher I CI; Bickeböller, Heike H; ,
Publication Date: 2022-01-31

Variant appearance in text: rs2044831
PubMed Link: 35101137
Variant Present in the following documents:
  • 40001_2022_638_MOESM1_ESM.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2044831
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs2044831
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Bayesian variable selection for parametric survival model with applications to cancer omics data.

Human Genomics
Duan, Weiwei W; Zhang, Ruyang R; Zhao, Yang Y; Shen, Sipeng S; Wei, Yongyue Y; Chen, Feng F; Christiani, David C DC
Publication Date: 2018-11-06

Variant appearance in text: rs2044831
PubMed Link: 30400837
Variant Present in the following documents:
  • Main text
  • 40246_2018_Article_179.pdf
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: rs2044831
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
  • Table_5.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: rs2044831
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs2044831
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page