HEPHL1 c.1141C>T ;(p.R381C)

Variant ID: 11-93803617-C-T

NM_001098672.1(HEPHL1):c.1141C>T;(p.R381C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: HEPHL1: R381C
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: HEPHL1: R381C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: HEPHL1: R381C
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: HEPHL1: 1141C>T; R381C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs12291622
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: HEPHL1: R381C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.

Nature Communications
Nones, Katia K; Waddell, Nicola N; Wayte, Nicci N; Patch, Ann-Marie AM; Bailey, Peter P; Newell, Felicity F; Holmes, Oliver O; Fink, J Lynn JL; Quinn, Michael C J MCJ; Tang, Yue Hang YH; Lampe, Guy G; Quek, Kelly K; Loffler, Kelly A KA; Manning, Suzanne S; Idrisoglu, Senel S; Miller, David D; Xu, Qinying Q; Waddell, Nick N; Wilson, Peter J PJ; Bruxner, Timothy J C TJC; Christ, Angelika N AN; Harliwong, Ivon I; Nourse, Craig C; Nourbakhsh, Ehsan E; Anderson, Matthew M; Kazakoff, Stephen S; Leonard, Conrad C; Wood, Scott S; Simpson, Peter T PT; Reid, Lynne E LE; Krause, Lutz L; Hussey, Damian J DJ; Watson, David I DI; Lord, Reginald V RV; Nancarrow, Derek D; Phillips, Wayne A WA; Gotley, David D; Smithers, B Mark BM; Whiteman, David C DC; Hayward, Nicholas K NK; Campbell, Peter J PJ; Pearson, John V JV; Grimmond, Sean M SM; Barbour, Andrew P AP
Publication Date: 2014-10-29

Variant appearance in text: HEPHL1: R381C; rs12291622
PubMed Link: 25351503
Variant Present in the following documents:
  • NIHMS64791-supplement-Supplementary_data_3.xlsx, sheet 1
View BVdb publication page