G6PC2 c.655G>C ;(p.V219L)

Variant ID: 2-169764176-G-C

NM_021176.2(G6PC2):c.655G>C;(p.V219L)

This variant was identified in 51 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: G6PC2: 655G>C; Val219Leu; rs492594
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: G6PC2: 655G>C; Val219Leu
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



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: G6PC2: V219L; rs492594
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: G6PC2: 655G>C; V219L; rs492594
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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: G6PC2: V219L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: G6PC2: V219L
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.

Communications Biology
DiCorpo, Daniel D; Gaynor, Sheila M SM; Russell, Emily M EM; Westerman, Kenneth E KE; Raffield, Laura M LM; Majarian, Timothy D TD; Wu, Peitao P; Sarnowski, Chloé C; Highland, Heather M HM; Jackson, Anne A; Hasbani, Natalie R NR; de Vries, Paul S PS; Brody, Jennifer A JA; Hidalgo, Bertha B; Guo, Xiuqing X; Perry, James A JA; O'Connell, Jeffrey R JR; Lent, Samantha S; Montasser, May E ME; Cade, Brian E BE; Jain, Deepti D; Wang, Heming H; D'Oliveira Albanus, Ricardo R; Varshney, Arushi A; Yanek, Lisa R LR; Lange, Leslie L; Palmer, Nicholette D ND; Almeida, Marcio M; Peralta, Juan M JM; Aslibekyan, Stella S; Baldridge, Abigail S AS; Bertoni, Alain G AG; Bielak, Lawrence F LF; Chen, Chung-Shiuan CS; Chen, Yii-Der Ida YI; Choi, Won Jung WJ; Goodarzi, Mark O MO; Floyd, James S JS; Irvin, Marguerite R MR; Kalyani, Rita R RR; Kelly, Tanika N TN; Lee, Seonwook S; Liu, Ching-Ti CT; Loesch, Douglas D; Manson, JoAnn E JE; Minster, Ryan L RL; Naseri, Take T; Pankow, James S JS; Rasmussen-Torvik, Laura J LJ; Reiner, Alexander P AP; Reupena, Muagututi'a Sefuiva MS; Selvin, Elizabeth E; Smith, Jennifer A JA; Weeks, Daniel E DE; Xu, Huichun H; Yao, Jie J; Zhao, Wei W; Parker, Stephen S; Alonso, Alvaro A; Arnett, Donna K DK; Blangero, John J; Boerwinkle, Eric E; Correa, Adolfo A; Cupples, L Adrienne LA; Curran, Joanne E JE; Duggirala, Ravindranath R; He, Jiang J; Heckbert, Susan R SR; Kardia, Sharon L R SLR; Kim, Ryan W RW; Kooperberg, Charles C; Liu, Simin S; Mathias, Rasika A RA; McGarvey, Stephen T ST; Mitchell, Braxton D BD; Morrison, Alanna C AC; Peyser, Patricia A PA; Psaty, Bruce M BM; Redline, Susan S; Shuldiner, Alan R AR; Taylor, Kent D KD; Vasan, Ramachandran S RS; Viaud-Martinez, Karine A KA; Florez, Jose C JC; Wilson, James G JG; Sladek, Robert R; Rich, Stephen S SS; Rotter, Jerome I JI; Lin, Xihong X; Dupuis, Josée J; Meigs, James B JB; Wessel, Jennifer J; Manning, Alisa K AK
Publication Date: 2022-07-28

Variant appearance in text: G6PC2: Val219Leu; rs492594
PubMed Link: 35902682
Variant Present in the following documents:
  • Main text
  • 42003_2022_3702_MOESM1_ESM.pdf
  • 42003_2022_Article_3702.pdf
View BVdb publication page



Non-synonymous single nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity and fasting blood glucose.

The Journal Of Biological Chemistry
Overway, Emily M EM; Bosma, Karin J KJ; Claxton, Derek P DP; Oeser, James K JK; Singh, Kritika K; Breidenbach, Lindsay B LB; Mchaourab, Hassane S HS; Davis, Lea K LK; O'Brien, Richard M RM
Publication Date: 2021-12-23

Variant appearance in text: G6PC2: Val219Leu; rs492594
PubMed Link: 34954144
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose.

The Journal Of Biological Chemistry
Overway, Emily M EM; Bosma, Karin J KJ; Claxton, Derek P DP; Oeser, James K JK; Singh, Kritika K; Breidenbach, Lindsay B LB; Mchaourab, Hassane S HS; Davis, Lea K LK; O'Brien, Richard M RM
Publication Date: 2022-02

Variant appearance in text: G6PC2: Val219Leu; rs492594
PubMed Link: 34954144
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: G6PC2: V219L
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
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: G6PC2: 655G>C; V219L; rs492594
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: G6PC2: Val219Leu; rs492594
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: G6PC2: 655G>C; V219L; rs492594
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: G6PC2: 655G>C; V219L; rs492594
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study.

Pediatric Obesity
Buchanan, Victoria L VL; Wang, Yujie Y; Blanco, Estela E; Graff, Mariaelisa M; Albala, Cecilia C; Burrows, Raquel R; Santos, José L JL; Angel, Bárbara B; Lozoff, Betsy B; Voruganti, Venkata Saroja VS; Guo, Xiuqing X; Taylor, Kent D KD; Chen, Yii-Der Ida YI; Yao, Jie J; Tan, Jingyi J; Downie, Carolina C; Highland, Heather M HM; Justice, Anne E AE; Gahagan, Sheila S; North, Kari E KE
Publication Date: 2021-07

Variant appearance in text: rs492594
PubMed Link: 33381925
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glucose metabolism-related gene polymorphisms as the risk predictors of type 2 diabetes.

Diabetology & Metabolic Syndrome
Li, Cuilin C; Yang, Yuping Y; Liu, Xin X; Li, Zhongyu Z; Liu, Hong H; Tan, Qiuhong Q
Publication Date: 2020-11-04

Variant appearance in text: rs492594
PubMed Link: 33292424
Variant Present in the following documents:
  • Main text
  • 13098_2020_Article_604.pdf
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: G6PC2: 655G>C; V219L; rs492594
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Heritability and genome-wide association analyses of fasting plasma glucose in Chinese adult twins.

Bmc Genomics
Wang, Weijing W; Zhang, Caixia C; Liu, Hui H; Xu, Chunsheng C; Duan, Haiping H; Tian, Xiaocao X; Zhang, Dongfeng D
Publication Date: 2020-07-18

Variant appearance in text: rs492594
PubMed Link: 32682390
Variant Present in the following documents:
  • Main text
  • 12864_2020_Article_6898.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: rs492594
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: G6PC2: V219L
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Genetic Basis of Metabolic Disease.

Cell
Barroso, Inês I; McCarthy, Mark I MI
Publication Date: 2019-03-21

Variant appearance in text: G6PC2: Val219Leu
PubMed Link: 30901536
Variant Present in the following documents:
  • Main text
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
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: G6PC2: 655G>C; Val219Leu; rs492594
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: G6PC2: V219L; rs492594
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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: G6PC2: 655G>C; Val219Leu; rs492594
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Gene-gene interactions lead to higher risk for development of type 2 diabetes in a Chinese Han population: a prospective nested case-control study.

Lipids In Health And Disease
Zhou, Wen W; Li, Yuqian Y; Zhang, Lulu L; Shi, Yuanyuan Y; Wang, Chongjian C; Zhang, Dongdong D; Liu, Xuejiao X; Mao, Zhenxing Z; Li, Linlin L
Publication Date: 2018-07-28

Variant appearance in text: rs492594
PubMed Link: 30055620
Variant Present in the following documents:
  • Main text
  • 12944_2018_Article_813.pdf
View BVdb publication page



Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey.

Plos Genetics
Spracklen, Cassandra N CN; Shi, Jinxiu J; Vadlamudi, Swarooparani S; Wu, Ying Y; Zou, Meng M; Raulerson, Chelsea K CK; Davis, James P JP; Zeynalzadeh, Monica M; Jackson, Kayla K; Yuan, Wentao W; Wang, Haifeng H; Shou, Weihua W; Wang, Ying Y; Luo, Jingchun J; Lange, Leslie A LA; Lange, Ethan M EM; Popkin, Barry M BM; Gordon-Larsen, Penny P; Du, Shufa S; Huang, Wei W; Mohlke, Karen L KL
Publication Date: 2018-04

Variant appearance in text: rs492594
PubMed Link: 29621232
Variant Present in the following documents:
  • Main text
  • pgen.1007275.pdf
  • pgen.1007275.s018.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.

Genome Research
Bhattacharya, Sanchita S; Li, Jian J; Sockell, Alexandra A; Kan, Matthew J MJ; Bava, Felice A FA; Chen, Shann-Ching SC; Ávila-Arcos, María C MC; Ji, Xuhuai X; Smith, Emery E; Asadi, Narges B NB; Lachman, Ralph S RS; Lam, Hugo Y K HYK; Bustamante, Carlos D CD; Butte, Atul J AJ; Nolan, Garry P GP
Publication Date: 2018-04

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 29567674
Variant Present in the following documents:
  • supp_gr.223693.117_Supplemental_Table_S6_.xls, sheet 1
View BVdb publication page



Genotype-based recall to study metabolic effects of genetic variation: a pilot study of PPARG Pro12Ala carriers.

Upsala Journal Of Medical Sciences
Kamble, Prasad G PG; Gustafsson, Stefan S; Pereira, Maria J MJ; Lundkvist, Per P; Cook, Naomi N; Lind, Lars L; Franks, Paul W PW; Fall, Tove T; Eriksson, Jan W JW; Ingelsson, Erik E
Publication Date: 2017-11

Variant appearance in text: rs492594
PubMed Link: 29303622
Variant Present in the following documents:
  • Main text
  • iups-122-234.pdf
View BVdb publication page



Genetic aetiology of glycaemic traits: approaches and insights.

Human Molecular Genetics
Wheeler, Eleanor E; Marenne, Gaëlle G; Barroso, Inês I
Publication Date: 2017-10-01

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 28977447
Variant Present in the following documents:
  • Main text
  • ddx293.pdf
View BVdb publication page



Meta-analyses of the association of G6PC2 allele variants with elevated fasting glucose and type 2 diabetes.

Plos One
Shi, Yuanyuan Y; Li, Yuqian Y; Wang, Jinjin J; Wang, Chongjian C; Fan, Jingjing J; Zhao, Jingzhi J; Yin, Lei L; Liu, Xuejiao X; Zhang, Dongdong D; Li, Linlin L
Publication Date: 2017

Variant appearance in text: rs492594
PubMed Link: 28704540
Variant Present in the following documents:
  • Main text
  • pone.0181232.pdf
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Susceptibility to type 2 diabetes may be modulated by haplotypes in G6PC2, a target of positive selection.

Bmc Evolutionary Biology
Al-Daghri, Nasser M NM; Pontremoli, Chiara C; Cagliani, Rachele R; Forni, Diego D; Alokail, Majed S MS; Al-Attas, Omar S OS; Sabico, Shaun S; Riva, Stefania S; Clerici, Mario M; Sironi, Manuela M
Publication Date: 2017-02-07

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 28173748
Variant Present in the following documents:
  • Main text
  • 12862_2017_Article_897.pdf
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Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04

Variant appearance in text: G6PC2: V219L; rs492594
PubMed Link: 28009986
Variant Present in the following documents:
  • oncotarget-08-22741-s003.xlsx, sheet 2
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Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.

Plos One
Boortz, Kayla A KA; Syring, Kristen E KE; Pound, Lynley D LD; Wang, Yingda Y; Oeser, James K JK; O'Brien, Richard M RM
Publication Date: 2016

Variant appearance in text: G6PC2: Val219Leu; rs492594
PubMed Link: 27611587
Variant Present in the following documents:
  • Main text
  • pone.0162439.pdf
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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: G6PC2: V219L
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
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General Framework for Meta-Analysis of Haplotype Association Tests.

Genetic Epidemiology
Wang, Shuai S; Zhao, Jing Hua JH; An, Ping P; Guo, Xiuqing X; Jensen, Richard A RA; Marten, Jonathan J; Huffman, Jennifer E JE; Meidtner, Karina K; Boeing, Heiner H; Campbell, Archie A; Rice, Kenneth M KM; Scott, Robert A RA; Yao, Jie J; Schulze, Matthias B MB; Wareham, Nicholas J NJ; Borecki, Ingrid B IB; Province, Michael A MA; Rotter, Jerome I JI; Hayward, Caroline C; Goodarzi, Mark O MO; Meigs, James B JB; Dupuis, Josée J
Publication Date: 2016-04

Variant appearance in text: rs492594
PubMed Link: 27027517
Variant Present in the following documents:
  • Main text
  • GEPI-40-244.pdf
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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: rs492594
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: G6PC2: V219L; rs492594
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 3
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