RNF43 c.1028G>A ;(p.R343H)

Variant ID: 17-56436109-C-T

NM_017763.4(RNF43):c.1028G>A;(p.R343H)

This variant was identified in 20 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: RNF43: R343H; rs34523089
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: RNF43: R343H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_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: RNF43: R343H; rs34523089
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
View BVdb publication page



Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT.

Communications Biology
Moksnes, Marta R MR; Graham, Sarah E SE; Wu, Kuan-Han KH; Hansen, Ailin Falkmo AF; Gagliano Taliun, Sarah A SA; Zhou, Wei W; Thorstensen, Ketil K; Fritsche, Lars G LG; Gill, Dipender D; Mason, Amy A; Cucca, Francesco F; Schlessinger, David D; Abecasis, Gonçalo R GR; Burgess, Stephen S; Åsvold, Bjørn Olav BO; Nielsen, Jonas B JB; Hveem, Kristian K; Willer, Cristen J CJ; Brumpton, Ben M BM
Publication Date: 2022-06-16

Variant appearance in text: RNF43: R343H; rs34523089
PubMed Link: 35710628
Variant Present in the following documents:
  • 42003_2022_3529_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: RNF43: R343H; rs34523089
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: RNF43: 1028G>A; R343H; rs34523089
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
  • ct9-12-e00431-s005.xlsx, sheet 1
View BVdb publication page



A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.

Communications Biology
Bell, Steven S; Rigas, Andreas S AS; Magnusson, Magnus K MK; Ferkingstad, Egil E; Allara, Elias E; Bjornsdottir, Gyda G; Ramond, Anna A; Sørensen, Erik E; Halldorsson, Gisli H GH; Paul, Dirk S DS; Burgdorf, Kristoffer S KS; Eggertsson, Hannes P HP; Howson, Joanna M M JMM; Thørner, Lise W LW; Kristmundsdottir, Snaedis S; Astle, William J WJ; Erikstrup, Christian C; Sigurdsson, Jon K JK; Vuckovic, Dragana D; Dinh, Khoa M KM; Tragante, Vinicius V; Surendran, Praveen P; Pedersen, Ole B OB; Vidarsson, Brynjar B; Jiang, Tao T; Paarup, Helene M HM; Onundarson, Pall T PT; Akbari, Parsa P; Nielsen, Kaspar R KR; Lund, Sigrun H SH; Juliusson, Kristinn K; Magnusson, Magnus I MI; Frigge, Michael L ML; Oddsson, Asmundur A; Olafsson, Isleifur I; Kaptoge, Stephen S; Hjalgrim, Henrik H; Runarsson, Gudmundur G; Wood, Angela M AM; Jonsdottir, Ingileif I; Hansen, Thomas F TF; Sigurdardottir, Olof O; Stefansson, Hreinn H; Rye, David D; , ; Peters, James E JE; Westergaard, David D; Holm, Hilma H; Soranzo, Nicole N; Banasik, Karina K; Thorleifsson, Gudmar G; Ouwehand, Willem H WH; Thorsteinsdottir, Unnur U; Roberts, David J DJ; Sulem, Patrick P; Butterworth, Adam S AS; Gudbjartsson, Daniel F DF; Danesh, John J; Brunak, Søren S; Di Angelantonio, Emanuele E; Ullum, Henrik H; Stefansson, Kari K
Publication Date: 2021-02-03

Variant appearance in text: RNF43: Arg343His; rs34523089
PubMed Link: 33536631
Variant Present in the following documents:
  • 42003_2020_1575_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Loss of RNF43 Function Contributes to Gastric Carcinogenesis by Impairing DNA Damage Response.

Cellular And Molecular Gastroenterology And Hepatology
Neumeyer, Victoria V; Brutau-Abia, Anna A; Allgäuer, Michael M; Pfarr, Nicole N; Weichert, Wilko W; Falkeis-Veits, Christina C; Kremmer, Elisabeth E; Vieth, Michael M; Gerhard, Markus M; Mejías-Luque, Raquel R
Publication Date: 2021

Variant appearance in text: RNF43: R343H; rs34523089
PubMed Link: 33188943
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.

Molecular Oncology
Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR
Publication Date: 2021-02

Variant appearance in text: RNF43: R343H
PubMed Link: 33169510
Variant Present in the following documents:
  • MOL2-15-381-s009.xlsx, sheet 1
View BVdb publication page



Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications
Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J
Publication Date: 2020-10-14

Variant appearance in text: RNF43: R343H
PubMed Link: 33056981
Variant Present in the following documents:
  • 41467_2020_18987_MOESM7_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: RNF43: R343H; rs34523089
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genome-Wide Somatic Copy Number Alterations and Mutations in High-Grade Pancreatic Intraepithelial Neoplasia.

The American Journal Of Pathology
Hata, Tatsuo T; Suenaga, Masaya M; Marchionni, Luigi L; Macgregor-Das, Anne A; Yu, Jun J; Shindo, Koji K; Tamura, Koji K; Hruban, Ralph H RH; Goggins, Michael M
Publication Date: 2018-07

Variant appearance in text: RNF43: R343H
PubMed Link: 29684357
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: RNF43: R343H; rs34523089
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
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: RNF43: R343H; rs34523089
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.

Virchows Archiv : An International Journal Of Pathology
Wood, Laura D LD; Noë, Michaël M; Hackeng, Wenzel W; Brosens, Lodewijk A A LA; Bhaijee, Feriyl F; Debeljak, Marija M; Yu, Jun J; Suenaga, Masaya M; Singhi, Aatur D AD; Zaheer, Atif A; Boyce, Alison A; Robinson, Cemre C; Eshleman, James R JR; Goggins, Michael G MG; Hruban, Ralph H RH; Collins, Michael T MT; Lennon, Anne Marie AM; Montgomery, Elizabeth A EA
Publication Date: 2017-04

Variant appearance in text: RNF43: R343H
PubMed Link: 28188442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms.

Gut
Yu, Jun J; Sadakari, Yoshihiko Y; Shindo, Koji K; Suenaga, Masaya M; Brant, Aaron A; Almario, Jose Alejandro Navarro JAN; Borges, Michael M; Barkley, Thomas T; Fesharakizadeh, Shahriar S; Ford, Madeline M; Hruban, Ralph H RH; Shin, Eun Ji EJ; Lennon, Anne Marie AM; Canto, Marcia Irene MI; Goggins, Michael M
Publication Date: 2017-09

Variant appearance in text: RNF43: R343H
PubMed Link: 27432539
Variant Present in the following documents:
  • Main text
  • gutjnl-2015-311166.pdf
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: RNF43: R343H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: RNF43: R343H; rs34523089
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: RNF43: R343H; rs34523089
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page