ELAC2 c.650C>G ;(p.S217W)

Variant ID: 17-12915009-G-C

NM_018127.6(ELAC2):c.650C>G;(p.S217W)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs4792311
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs4792311
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: rs4792311
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



A comprehensive study of circulating tumour cells at the moment of prostate cancer diagnosis: biological and clinical implications of EGFR, AR and SNPs.

Oncotarget
Puche-Sanz, Ignacio I; Alvarez-Cubero, María J MJ; Pascual-Geler, Manrique M; Rodríguez-Martínez, Alba A; Delgado-Rodríguez, Miguel M; García-Puche, José L JL; Expósito, José J; Robles-Fernández, Inmaculada I; Entrala-Bernal, Carmen C; Lorente, José A JA; Cózar-Olmo, José M JM; Serrano, María J MJ
Publication Date: 2017-09-19

Variant appearance in text: rs4792311
PubMed Link: 29050295
Variant Present in the following documents:
  • Main text
  • oncotarget-08-70472.pdf
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: rs4792311
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: rs4792311
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.

European Urology
Cartwright, Rufus R; Mangera, Altaf A; Tikkinen, Kari A O KA; Rajan, Prabhakar P; Pesonen, Jori J; Kirby, Anna C AC; Thiagamoorthy, Ganesh G; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip R PR; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Khullar, Vik V; Chapple, Chris C
Publication Date: 2014-10

Variant appearance in text: rs4792311
PubMed Link: 24491308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing and analysis of a South Asian-Indian personal genome.

Bmc Genomics
Gupta, Ravi R; Ratan, Aakrosh A; Rajesh, Changanamkandath C; Chen, Rong R; Kim, Hie Lim HL; Burhans, Richard R; Miller, Webb W; Santhosh, Sam S; Davuluri, Ramana V RV; Butte, Atul J AJ; Schuster, Stephan C SC; Seshagiri, Somasekar S; Thomas, George G
Publication Date: 2012-08-31

Variant appearance in text: rs4792311
PubMed Link: 22938532
Variant Present in the following documents:
  • 1471-2164-13-440-S2.xlsx, sheet 11
View BVdb publication page



Identification of autoimmune gene signatures in autism.

Translational Psychiatry
Jung, J-Y JY; Kohane, I S IS; Wall, D P DP
Publication Date: 2011-12-13

Variant appearance in text: rs4792311
PubMed Link: 22832355
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel gene-environment interaction involved in endometriosis.

International Journal Of Gynaecology And Obstetrics: The Official Organ Of The International Federation Of Gynaecology And Obstetrics
McCarty, Catherine A CA; Berg, Richard L RL; Welter, Joseph D JD; Kitchner, Terrie E TE; Kemnitz, Joseph W JW
Publication Date: 2012-01

Variant appearance in text: rs4792311
PubMed Link: 22024213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

Bmc Genetics
Cross, Deanna S DS; Ivacic, Lynn C LC; Stefanski, Elisha L EL; McCarty, Catherine A CA
Publication Date: 2010-06-17

Variant appearance in text: rs4792311
PubMed Link: 20565774
Variant Present in the following documents:
  • Main text
  • 1471-2156-11-51.pdf
View BVdb publication page



Development of a fingerprinting panel using medically relevant polymorphisms.

Bmc Medical Genomics
Cross, Deanna S DS; Ivacic, Lynn C LC; McCarty, Catherine A CA
Publication Date: 2009-04-20

Variant appearance in text: rs4792311
PubMed Link: 19379518
Variant Present in the following documents:
  • Main text
  • 1755-8794-2-17.pdf
View BVdb publication page