ZNF646 c.702G>A ;(p.E234=)

Variant ID: 16-31088347-G-A

NM_014699.3(ZNF646):c.702G>A;(p.E234=)

This variant was identified in 29 publications

View GRCh38 version.




Publications:


Association of triglyceride levels and prostate cancer: a Mendelian randomization study.

Bmc Urology
Zhu, Shusheng S; Hu, Xia X; Fan, Yanpeng Y
Publication Date: 2022-10-31

Variant appearance in text: rs749671
PubMed Link: 36316671
Variant Present in the following documents:
  • Main text
  • 12894_2022_Article_1120.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: ZNF646: E234E
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page



Prioritising positively selected variants in whole-genome sequencing data using FineMAV.

Bmc Bioinformatics
Wahyudi, Fadilla F; Aghakhanian, Farhang F; Rahman, Sadequr S; Teo, Yik-Ying YY; Szpak, Michał M; Dhaliwal, Jasbir J; Ayub, Qasim Q
Publication Date: 2021-12-18

Variant appearance in text: rs749671
PubMed Link: 34922440
Variant Present in the following documents:
  • Main text
  • 12859_2021_Article_4506.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ZNF646: 702G>A; E234E; rs749671
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: ZNF646: Glu234Glu; rs749671
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Allele-specific expression of Parkinson's disease susceptibility genes in human brain.

Scientific Reports
Langmyhr, Margrete M; Henriksen, Sandra Pilar SP; Cappelletti, Chiara C; van de Berg, Wilma D J WDJ; Pihlstrøm, Lasse L; Toft, Mathias M
Publication Date: 2021-01-12

Variant appearance in text: rs749671
PubMed Link: 33436766
Variant Present in the following documents:
  • Main text
  • 41598_2020_79990_MOESM1_ESM.pdf
  • 41598_2020_Article_79990.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: ZNF646: E234E; rs749671
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Genome-wide association studies and Mendelian randomization analyses for leisure sedentary behaviours.

Nature Communications
van de Vegte, Yordi J YJ; Said, M Abdullah MA; Rienstra, Michiel M; van der Harst, Pim P; Verweij, Niek N
Publication Date: 2020-04-21

Variant appearance in text: rs749671
PubMed Link: 32317632
Variant Present in the following documents:
  • 41467_2020_15553_MOESM1_ESM.pdf
  • 41467_2020_15553_MOESM6_ESM.xlsx, sheet 1
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: rs749671
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Waist circumference increases risk of coronary heart disease: Evidence from a Mendelian randomization study.

Molecular Genetics & Genomic Medicine
Chen, Qinchang Q; Li, Lingling L; Yi, Junzhe J; Huang, Kai K; Shen, Runnan R; Wu, Ridong R; Yao, Chen C
Publication Date: 2020-04

Variant appearance in text: rs749671
PubMed Link: 32090477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

Nature Communications
,
Publication Date: 2018-12-10

Variant appearance in text: rs749671
PubMed Link: 30531953
Variant Present in the following documents:
  • 41467_2018_7524_MOESM1_ESM.pdf
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: rs749671
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.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: ZNF646: 702G>A; rs749671
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Pharmacogenetic studies with oral anticoagulants. Genome-wide association studies in vitamin K antagonist and direct oral anticoagulants.

Oncotarget
Cullell, Natalia N; Carrera, Caty C; Muiño, Elena E; Torres, Nuria N; Krupinski, Jerzy J; Fernandez-Cadenas, Israel I
Publication Date: 2018-06-26

Variant appearance in text: rs749671
PubMed Link: 30018749
Variant Present in the following documents:
  • Main text
  • oncotarget-09-29238.pdf
View BVdb publication page



Role of Blood Lipids in the Development of Ischemic Stroke and its Subtypes: A Mendelian Randomization Study.

Stroke
Hindy, George G; Engström, Gunnar G; Larsson, Susanna C SC; Traylor, Matthew M; Markus, Hugh S HS; Melander, Olle O; Orho-Melander, Marju M; ,
Publication Date: 2018-04

Variant appearance in text: rs749671
PubMed Link: 29535274
Variant Present in the following documents:
  • str-49-820-s001.pdf
View BVdb publication page



Meta-analysis of human gene expression in response to Mycobacterium tuberculosis infection reveals potential therapeutic targets.

Bmc Systems Biology
Wang, Zhang Z; Arat, Seda S; Magid-Slav, Michal M; Brown, James R JR
Publication Date: 2018-01-10

Variant appearance in text: rs749671
PubMed Link: 29321020
Variant Present in the following documents:
  • Main text
  • 12918_2017_Article_524.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: ZNF646: E234E; rs749671
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Establishing multiple omics baselines for three Southeast Asian populations in the Singapore Integrative Omics Study.

Nature Communications
Saw, Woei-Yuh WY; Tantoso, Erwin E; Begum, Husna H; Zhou, Lihan L; Zou, Ruiyang R; He, Cheng C; Chan, Sze Ling SL; Tan, Linda Wei-Lin LW; Wong, Lai-Ping LP; Xu, Wenting W; Moong, Don Kyin Nwe DKN; Lim, Yenly Y; Li, Bowen B; Pillai, Nisha Esakimuthu NE; Peterson, Trevor A TA; Bielawny, Tomasz T; Meikle, Peter J PJ; Mundra, Piyushkumar A PA; Lim, Wei-Yen WY; Luo, Ma M; Chia, Kee-Seng KS; Ong, Rick Twee-Hee RT; Brunham, Liam R LR; Khor, Chiea-Chuen CC; Too, Heng Phon HP; Soong, Richie R; Wenk, Markus R MR; Little, Peter P; Teo, Yik-Ying YY
Publication Date: 2017-09-21

Variant appearance in text: rs749671
PubMed Link: 28935855
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_413.pdf
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: rs749671
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: ZNF646: E234E; rs749671
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans.

Journal Of Thrombosis And Haemostasis : Jth
Hernandez, W W; Gamazon, E R ER; Aquino-Michaels, K K; Smithberger, E E; O'Brien, T J TJ; Harralson, A F AF; Tuck, M M; Barbour, A A; Cavallari, L H LH; Perera, M A MA
Publication Date: 2017-04

Variant appearance in text: rs749671
PubMed Link: 28135054
Variant Present in the following documents:
  • Main text
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: ZNF646: E234E
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: ZNF646: E234E; rs749671
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genome-wide association study of warfarin maintenance dose in a Brazilian sample.

Pharmacogenomics
Parra, Esteban J EJ; Botton, Mariana R MR; Perini, Jamila A JA; Krithika, S S; Bourgeois, Stephane S; Johnson, Todd A TA; Tsunoda, Tatsuhiko T; Pirmohamed, Munir M; Wadelius, Mia M; Limdi, Nita A NA; Cavallari, Larisa H LH; Burmester, James K JK; Rettie, Allan E AE; Klein, Teri E TE; Johnson, Julie A JA; Hutz, Mara H MH; Suarez-Kurtz, Guilherme G
Publication Date: 2015

Variant appearance in text: rs749671
PubMed Link: 26265036
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: ZNF646: E234E; rs749671
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: ZNF646: E234E
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ZNF646: E234E; rs749671
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, 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: ZNF646: E234E; rs749671
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.

Lancet (London, England)
Perera, Minoli A MA; Cavallari, Larisa H LH; Limdi, Nita A NA; Gamazon, Eric R ER; Konkashbaev, Anuar A; Daneshjou, Roxana R; Pluzhnikov, Anna A; Crawford, Dana C DC; Wang, Jelai J; Liu, Nianjun N; Tatonetti, Nicholas N; Bourgeois, Stephane S; Takahashi, Harumi H; Bradford, Yukiko Y; Burkley, Benjamin M BM; Desnick, Robert J RJ; Halperin, Jonathan L JL; Khalifa, Sherief I SI; Langaee, Taimour Y TY; Lubitz, Steven A SA; Nutescu, Edith A EA; Oetjens, Matthew M; Shahin, Mohamed H MH; Patel, Shitalben R SR; Sagreiya, Hersh H; Tector, Matthew M; Weck, Karen E KE; Rieder, Mark J MJ; Scott, Stuart A SA; Wu, Alan H B AH; Burmester, James K JK; Wadelius, Mia M; Deloukas, Panos P; Wagner, Michael J MJ; Mushiroda, Taisei T; Kubo, Michiaki M; Roden, Dan M DM; Cox, Nancy J NJ; Altman, Russ B RB; Klein, Teri E TE; Nakamura, Yusuke Y; Johnson, Julie A JA
Publication Date: 2013-08-31

Variant appearance in text: rs749671
PubMed Link: 23755828
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page