RAB23 c.434T>A ;(p.L145*)

Variant ID: 6-57059615-A-T

NM_016277.4(RAB23):c.434T>A;(p.L145*)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RAB23: 434T>A; Leu145Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.

Orphanet Journal Of Rare Diseases
Cassim, Afraah A; Hettiarachchi, Dineshani D; Dissanayake, Vajira H W VHW
Publication Date: 2022-05-12

Variant appearance in text: RAB23: 434T>A; L145X
PubMed Link: 35549993
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2339.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: RAB23: L145X; rs121908171
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: RAB23: L145X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: RAB23: 434T>A; Leu145*; rs121908171
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: RAB23: L145X; rs121908171
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Publication Date: 2018-12

Variant appearance in text: RAB23: 434T>A; L145*
PubMed Link: 30487145
Variant Present in the following documents:
  • supp_mcs.a003178_Supplemental_File_1.xlsx, sheet 1
View BVdb publication page



Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Scientific Reports
Hendricks, Audrey E AE; Bochukova, Elena G EG; Marenne, Gaëlle G; Keogh, Julia M JM; Atanassova, Neli N; Bounds, Rebecca R; Wheeler, Eleanor E; Mistry, Vanisha V; Henning, Elana E; Körner, Antje A; Muddyman, Dawn D; McCarthy, Shane S; Hinney, Anke A; Hebebrand, Johannes J; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nick J NJ; Surendran, Praveen P; Howson, Joanna M JM; Butterworth, Adam S AS; Danesh, John J; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Afzal, Shoaib S; Papadia, Sofia S; Ashford, Sofie S; Garg, Sumedha S; Millhauser, Glenn L GL; Palomino, Rafael I RI; Kwasniewska, Alexandra A; Tachmazidou, Ioanna I; O'Rahilly, Stephen S; Zeggini, Eleftheria E; Barroso, Inês I; Farooqi, I Sadaf IS; , ; , ; ,
Publication Date: 2017-06-29

Variant appearance in text: RAB23: L145X
PubMed Link: 28663568
Variant Present in the following documents:
  • 41598_2017_3054_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Rab23's genetic structure, function and related diseases: a review.

Bioscience Reports
Zheng, Li-Qiang LQ; Chi, Su-Min SM; Li, Cheng-Xin CX
Publication Date: 2017-04-30

Variant appearance in text: RAB23: L145X
PubMed Link: 28104793
Variant Present in the following documents:
  • BSR-2016-0410.pdf
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: RAB23: 434T>A; Leu145Ter
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Plos One
Fujikura, Kohei K
Publication Date: 2016

Variant appearance in text: rs121908171
PubMed Link: 27219052
Variant Present in the following documents:
  • Main text
  • pone.0155552.s003.pdf
  • pone.0155552.pdf
View BVdb publication page



PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.

Bmc Medical Genomics
Trakadis, Yannis J YJ; Buote, Caroline C; Therriault, Jean-François JF; Jacques, Pierre-Étienne PÉ; Larochelle, Hugo H; Lévesque, Sébastien S
Publication Date: 2014-05-12

Variant appearance in text: RAB23: 434T>A; Leu145Ter
PubMed Link: 24884844
Variant Present in the following documents:
  • 1755-8794-7-22.pdf
View BVdb publication page



A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.

Molecular Syndromology
Ben-Salem, S S; Begum, M A MA; Ali, B R BR; Al-Gazali, L L
Publication Date: 2013-01

Variant appearance in text: RAB23: 434T>A; L145X
PubMed Link: 23599695
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: RAB23: 434T>A; L145*; rs121908171
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 2
View BVdb publication page



Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

American Journal Of Human Genetics
Twigg, Stephen R F SR; Lloyd, Deborah D; Jenkins, Dagan D; Elçioglu, Nursel E NE; Cooper, Christopher D O CD; Al-Sannaa, Nouriya N; Annagür, Ali A; Gillessen-Kaesbach, Gabriele G; Hüning, Irina I; Knight, Samantha J L SJ; Goodship, Judith A JA; Keavney, Bernard D BD; Beales, Philip L PL; Gileadi, Opher O; McGowan, Simon J SJ; Wilkie, Andrew O M AO
Publication Date: 2012-11-02

Variant appearance in text: RAB23: 434T>A
PubMed Link: 23063620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Human Mutation
Jenkins, Dagan D; Baynam, Gareth G; De Catte, Luc L; Elcioglu, Nursel N; Gabbett, Michael T MT; Hudgins, Louanne L; Hurst, Jane A JA; Jehee, Fernanda Sarquis FS; Oley, Christine C; Wilkie, Andrew O M AO
Publication Date: 2011-04

Variant appearance in text: RAB23: 434T>A; L145X
PubMed Link: 21412941
Variant Present in the following documents:
  • Main text
  • humu0032-E2069.pdf
View BVdb publication page