LILRB2 c.59A>T ;(p.R20L)

Variant ID: 19-54784130-T-A

NM_001080978.2(LILRB2):c.59A>T;(p.R20L)

This variant was identified in 23 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: rs383369
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: rs383369
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_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: rs383369
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature).

International Journal Of Molecular Sciences
Smolarz, Beata B; Szyłło, Krzysztof K; Romanowicz, Hanna H
Publication Date: 2021-09-29

Variant appearance in text: rs383369
PubMed Link: 34638893
Variant Present in the following documents:
  • Main text
  • ijms-22-10554.pdf
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: rs383369
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: rs383369
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



The Genetic Background of Endometriosis: Can ESR2 and CYP19A1 Genes Be a Potential Risk Factor for Its Development?

International Journal Of Molecular Sciences
Smolarz, Beata B; Szyłło, Krzysztof K; Romanowicz, Hanna H
Publication Date: 2020-11-03

Variant appearance in text: rs383369
PubMed Link: 33153202
Variant Present in the following documents:
  • Main text
  • ijms-21-08235.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: rs383369
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, 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: rs383369
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



NK Cells as Potential Targets for Immunotherapy in Endometriosis.

Journal Of Clinical Medicine
Ścieżyńska, Aneta A; Komorowski, Michał M; Soszyńska, Marta M; Malejczyk, Jacek J
Publication Date: 2019-09-14

Variant appearance in text: rs383369
PubMed Link: 31540116
Variant Present in the following documents:
  • Main text
  • jcm-08-01468.pdf
View BVdb publication page



Defining the genetic profile of endometriosis.

Experimental And Therapeutic Medicine
Vassilopoulou, Loukia L; Matalliotakis, Michail M; Zervou, Maria I MI; Matalliotaki, Charoula C; Krithinakis, Konstantinos K; Matalliotakis, Ioannis I; Spandidos, Demetrios A DA; Goulielmos, George N GN
Publication Date: 2019-05

Variant appearance in text: rs383369
PubMed Link: 30988702
Variant Present in the following documents:
  • Main text
  • etm-17-05-3267.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: rs383369
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: rs383369
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: rs383369
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



The impact of HLA-G, LILRB1 and LILRB2 gene polymorphisms on susceptibility to and severity of endometriosis.

Molecular Genetics And Genomics : Mgg
Bylińska, Aleksandra A; Wilczyńska, Karolina K; Malejczyk, Jacek J; Milewski, Łukasz Ł; Wagner, Marta M; Jasek, Monika M; Niepiekło-Miniewska, Wanda W; Wiśniewski, Andrzej A; Płoski, Rafał R; Barcz, Ewa E; Roszkowski, Piotr P; Kamiński, Paweł P; Malinowski, Andrzej A; Wilczyński, Jacek R JR; Radwan, Paweł P; Radwan, Michał M; Kuśnierczyk, Piotr P; Nowak, Izabela I
Publication Date: 2018-06

Variant appearance in text: rs383369
PubMed Link: 29234882
Variant Present in the following documents:
  • Main text
  • 438_2017_Article_1404.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: rs383369
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
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: rs383369
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



GeneiASE: Detection of condition-dependent and static allele-specific expression from RNA-seq data without haplotype information.

Scientific Reports
Edsgärd, Daniel D; Iglesias, Maria Jesus MJ; Reilly, Sarah-Jayne SJ; Hamsten, Anders A; Tornvall, Per P; Odeberg, Jacob J; Emanuelsson, Olof O
Publication Date: 2016-02-18

Variant appearance in text: rs383369
PubMed Link: 26887787
Variant Present in the following documents:
  • Main text
  • srep21134.pdf
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: rs383369
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: rs383369
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Comprehensive functional annotation of 77 prostate cancer risk loci.

Plos Genetics
Hazelett, Dennis J DJ; Rhie, Suhn Kyong SK; Gaddis, Malaina M; Yan, Chunli C; Lakeland, Daniel L DL; Coetzee, Simon G SG; , ; , ; Henderson, Brian E BE; Noushmehr, Houtan H; Cozen, Wendy W; Kote-Jarai, Zsofia Z; Eeles, Rosalind A RA; Easton, Douglas F DF; Haiman, Christopher A CA; Lu, Wange W; Farnham, Peggy J PJ; Coetzee, Gerhard A GA
Publication Date: 2014-01

Variant appearance in text: rs383369
PubMed Link: 24497837
Variant Present in the following documents:
  • Main text
  • pgen.1004102.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs383369
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Evidence for natural selection on leukocyte immunoglobulin-like receptors for HLA class I in Northeast Asians.

American Journal Of Human Genetics
Hirayasu, Kouyuki K; Ohashi, Jun J; Tanaka, Hidenori H; Kashiwase, Koichi K; Ogawa, Atsuko A; Takanashi, Minoko M; Satake, Masahiro M; Jia, Guan Jun GJ; Chimge, Nyam-Osor NO; Sideltseva, Elena W EW; Tokunaga, Katsushi K; Yabe, Toshio T
Publication Date: 2008-05

Variant appearance in text: rs383369
PubMed Link: 18439545
Variant Present in the following documents:
  • Main text
View BVdb publication page