LAMB2 c.2959G>A ;(p.E987K)

Variant ID: 3-49162284-C-T

NM_002292.3(LAMB2):c.2959G>A;(p.E987K)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


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: LAMB2: E987K; rs34759087
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Nature Genetics
Aragam, Krishna G KG; Jiang, Tao T; Goel, Anuj A; Kanoni, Stavroula S; Wolford, Brooke N BN; Atri, Deepak S DS; Weeks, Elle M EM; Wang, Minxian M; Hindy, George G; Zhou, Wei W; Grace, Christopher C; Roselli, Carolina C; Marston, Nicholas A NA; Kamanu, Frederick K FK; Surakka, Ida I; Venegas, Loreto Muñoz LM; Sherliker, Paul P; Koyama, Satoshi S; Ishigaki, Kazuyoshi K; Åsvold, Bjørn O BO; Brown, Michael R MR; Brumpton, Ben B; de Vries, Paul S PS; Giannakopoulou, Olga O; Giardoglou, Panagiota P; Gudbjartsson, Daniel F DF; Güldener, Ulrich U; Haider, Syed M Ijlal SMI; Helgadottir, Anna A; Ibrahim, Maysson M; Kastrati, Adnan A; Kessler, Thorsten T; Kyriakou, Theodosios T; Konopka, Tomasz T; Li, Ling L; Ma, Lijiang L; Meitinger, Thomas T; Mucha, Sören S; Munz, Matthias M; Murgia, Federico F; Nielsen, Jonas B JB; Nöthen, Markus M MM; Pang, Shichao S; Reinberger, Tobias T; Schnitzler, Gavin G; Smedley, Damian D; Thorleifsson, Gudmar G; von Scheidt, Moritz M; Ulirsch, Jacob C JC; , ; , ; Arnar, David O DO; Burtt, Noël P NP; Costanzo, Maria C MC; Flannick, Jason J; Ito, Kaoru K; Jang, Dong-Keun DK; Kamatani, Yoichiro Y; Khera, Amit V AV; Komuro, Issei I; Kullo, Iftikhar J IJ; Lotta, Luca A LA; Nelson, Christopher P CP; Roberts, Robert R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Webb, Thomas R TR; Baras, Aris A; Björkegren, Johan L M JLM; Boerwinkle, Eric E; Dedoussis, George G; Holm, Hilma H; Hveem, Kristian K; Melander, Olle O; Morrison, Alanna C AC; Orho-Melander, Marju M; Rallidis, Loukianos S LS; Ruusalepp, Arno A; Sabatine, Marc S MS; Stefansson, Kari K; Zalloua, Pierre P; Ellinor, Patrick T PT; Farrall, Martin M; Danesh, John J; Ruff, Christian T CT; Finucane, Hilary K HK; Hopewell, Jemma C JC; Clarke, Robert R; Gupta, Rajat M RM; Erdmann, Jeanette J; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; Willer, Cristen J CJ; Deloukas, Panos P; Kathiresan, Sekar S; Butterworth, Adam S AS; ,
Publication Date: 2022-12

Variant appearance in text: rs34759087
PubMed Link: 36474045
Variant Present in the following documents:
  • 41588_2022_Article_1233.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: LAMB2: E987K
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Machine Learning Revealed Ferroptosis Features and a Novel Ferroptosis-Based Classification for Diagnosis in Acute Myocardial Infarction.

Frontiers In Genetics
Huang, Dan D; Zheng, Shiya S; Liu, Zhuyuan Z; Zhu, Kongbo K; Zhi, Hong H; Ma, Genshan G
Publication Date: 2022

Variant appearance in text: rs34759087
PubMed Link: 35145551
Variant Present in the following documents:
  • Main text
  • fgene-13-813438.pdf
View BVdb publication page



Pleiotropic predisposition to Alzheimer's disease and educational attainment: insights from the summary statistics analysis.

Geroscience
Kulminski, Alexander M AM; Loiko, Elena E; Loika, Yury Y; Culminskaya, Irina I
Publication Date: 2022-02

Variant appearance in text: rs34759087
PubMed Link: 34743297
Variant Present in the following documents:
  • Main text
  • 11357_2021_Article_484.pdf
View BVdb publication page



Pleiotropic predisposition to Alzheimer's disease and educational attainment: insights from the summary statistics analysis.

Geroscience
Kulminski, Alexander M AM; Loiko, Elena E; Loika, Yury Y; Culminskaya, Irina I
Publication Date: 2021-11-06

Variant appearance in text: rs34759087
PubMed Link: 34743297
Variant Present in the following documents:
  • Main text
  • 11357_2021_Article_484.pdf
View BVdb publication page



Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: LAMB2: E987K
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
View BVdb publication page



Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Publication Date: 2021-09

Variant appearance in text: LAMB2: E987K
PubMed Link: 34239129
Variant Present in the following documents:
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
  • NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5
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: LAMB2: 2959G>A; E987K; rs34759087
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: LAMB2: E987K
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: LAMB2: 2959G>A; Glu987Lys
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 12
  • Supplementary_Data2.xlsx, sheet 9
  • Supplementary_Data2.xlsx, sheet 11
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LAMB2: 2959G>A; Glu987Lys; rs34759087
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_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: LAMB2: E987K; rs34759087
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: LAMB2: 2959G>A; Glu987Lys
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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: LAMB2: E987K; rs34759087
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
View BVdb publication page



Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.

Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Publication Date: 2018-03-02

Variant appearance in text: rs34759087
PubMed Link: 29500430
Variant Present in the following documents:
  • 41467_2018_3311_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Item-level analyses reveal genetic heterogeneity in neuroticism.

Nature Communications
Nagel, Mats M; Watanabe, Kyoko K; Stringer, Sven S; Posthuma, Danielle D; van der Sluis, Sophie S
Publication Date: 2018-03-02

Variant appearance in text: rs34759087
PubMed Link: 29500382
Variant Present in the following documents:
  • 41467_2018_3242_MOESM2_ESM.pdf
View BVdb publication page



Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

Circulation Research
van der Harst, Pim P; Verweij, Niek N
Publication Date: 2018-02-02

Variant appearance in text: LAMB2: E987K; rs34759087
PubMed Link: 29212778
Variant Present in the following documents:
  • res-122-433-s002.xlsx, sheet 10
View BVdb publication page



Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Publication Date: 2016-07-26

Variant appearance in text: LAMB2: E987K; rs34759087
PubMed Link: 27456059
Variant Present in the following documents:
  • srep30457-s2.xls, sheet 1
  • srep30457-s2.xls, sheet 2
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: rs34759087
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: LAMB2: E987K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.

Environmental Health And Preventive Medicine
Nanayakkara, Shanika S; Senevirathna, S T M L D ST; Parahitiyawa, Nipuna B NB; Abeysekera, Tilak T; Chandrajith, Rohana R; Ratnatunga, Neelakanthi N; Hitomi, Toshiaki T; Kobayashi, Hatasu H; Harada, Kouji H KH; Koizumi, Akio A
Publication Date: 2015-09

Variant appearance in text: LAMB2: 2959G>A; E987K; rs34759087
PubMed Link: 26108971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: LAMB2: E987K; rs34759087
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, 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: LAMB2: E987K; rs34759087
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: LAMB2: E987K; rs34759087
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
View BVdb publication page



Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.

Human Mutation
Matejas, Verena V; Hinkes, Bernward B; Alkandari, Faisal F; Al-Gazali, Lihadh L; Annexstad, Ellen E; Aytac, Mehmet B MB; Barrow, Margaret M; Bláhová, Kveta K; Bockenhauer, Detlef D; Cheong, Hae Il HI; Maruniak-Chudek, Iwona I; Cochat, Pierre P; Dötsch, Jörg J; Gajjar, Priya P; Hennekam, Raoul C RC; Janssen, Françoise F; Kagan, Mikhail M; Kariminejad, Ariana A; Kemper, Markus J MJ; Koenig, Jens J; Kogan, Jillene J; Kroes, Hester Y HY; Kuwertz-Bröking, Eberhard E; Lewanda, Amy F AF; Medeira, Ana A; Muscheites, Jutta J; Niaudet, Patrick P; Pierson, Michel M; Saggar, Anand A; Seaver, Laurie L; Suri, Mohnish M; Tsygin, Alexey A; Wühl, Elke E; Zurowska, Aleksandra A; Uebe, Steffen S; Hildebrandt, Friedhelm F; Antignac, Corinne C; Zenker, Martin M
Publication Date: 2010-09

Variant appearance in text: LAMB2: 2959G>A; E987K; rs34759087
PubMed Link: 20556798
Variant Present in the following documents:
  • Main text
View BVdb publication page