SBSPON c.556T>C ;(p.W186R)

SBSPON c.556T>C ;(p.W186R)

Variant ID: 8-73982161-A-G

NM_153225.3(SBSPON):c.556T>C;(p.W186R)

This variant was identified in 41 publications

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

Publications:

Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: SBSPON: W186R; rs2291219

PubMed Link: 36991000

Variant Present in the following documents:

41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: SBSPON: W186R; rs2291219

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: rs2291219

PubMed Link: 36467812

Variant Present in the following documents:

JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: SBSPON: 556T>C; Trp186Arg; rs2291219

PubMed Link: 36269797

Variant Present in the following documents:

ccr-22-2060_supplementary_table_s5_suppts5.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: SBSPON: W186R

PubMed Link: 36241656

Variant Present in the following documents:

41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

41598_2022_20939_MOESM10_ESM.xlsx, sheet 2

41598_2022_20939_MOESM6_ESM.xlsx, sheet 2

41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

41598_2022_20939_MOESM2_ESM.xlsx, sheet 2

41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

41598_2022_20939_MOESM9_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: SBSPON: W186R

PubMed Link: 36075891

Variant Present in the following documents:

41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: SBSPON: W186R

PubMed Link: 35311085

Variant Present in the following documents:

Table_1.xlsx, sheet 4

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: SBSPON: W186R

PubMed Link: 35095878

Variant Present in the following documents:

Table_2.xlsx, sheet 1

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: SBSPON: W186R

PubMed Link: 34858801

Variant Present in the following documents:

Table_1.xls, 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: SBSPON: W186R; rs2291219

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: SBSPON: 556T>C; W186R; rs2291219

PubMed Link: 33770142

Variant Present in the following documents:

pone.0249324.s003.xlsx, sheet 2

pone.0249324.s003.xlsx, sheet 1

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: C8orf84: W186R; rs2291219

PubMed Link: 33420045

Variant Present in the following documents:

41540_2020_161_MOESM3_ESM.xlsx, sheet 3

41540_2020_161_MOESM3_ESM.xlsx, sheet 6

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: SBSPON: W186R; rs2291219

PubMed Link: 32529721

Variant Present in the following documents:

JCLA-34-e23418-s003.xls, sheet 1

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: rs2291219

PubMed Link: 32313182

Variant Present in the following documents:

42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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: SBSPON: W186R

PubMed Link: 32273506

Variant Present in the following documents:

41467_2020_15456_MOESM4_ESM.xlsx, sheet 1

41467_2020_15456_MOESM5_ESM.xlsx, sheet 1

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: SBSPON: 556T>C; Trp186Arg

PubMed Link: 31894249

Variant Present in the following documents:

Supplementary_Data2.xlsx, sheet 10

Supplementary_Data2.xlsx, sheet 11

Supplementary_Data2.xlsx, sheet 9

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: SBSPON: W186R; rs2291219

PubMed Link: 31597922

Variant Present in the following documents:

41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

41598_2019_50891_MOESM2_ESM.xlsx, sheet 1

41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.

Elife

Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: rs2291219

PubMed Link: 30958262

Variant Present in the following documents:

elife-41608-supp9.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: C8orf84: W186R; rs2291219

PubMed Link: 30894629

Variant Present in the following documents:

41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

41598_2019_41277_MOESM4_ESM.xlsx, sheet 3

41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

41598_2019_41277_MOESM4_ESM.xlsx, sheet 9

41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

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: rs2291219

PubMed Link: 30814510

Variant Present in the following documents:

41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

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: SBSPON: W186R; rs2291219

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: SBSPON: 556T>C; Trp186Arg; rs2291219

PubMed Link: 30319441

Variant Present in the following documents:

Table_7.xlsx, sheet 1

Table_5.xlsx, sheet 1

View BVdb publication page

Uncovering the complex genetics of human character.

Molecular Psychiatry

Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR

Publication Date: 2020-10

Variant appearance in text: SBSPON: 556T>C; Trp186Arg; rs2291219

PubMed Link: 30283034

Variant Present in the following documents:

41380_2018_263_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

Uncovering the complex genetics of human temperament.

Molecular Psychiatry

Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR

Publication Date: 2020-10

Variant appearance in text: SBSPON: 556T>C; Trp186Arg; rs2291219

PubMed Link: 30279457

Variant Present in the following documents:

41380_2018_264_MOESM15_ESM.xlsx, sheet 1

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: SBSPON: W186R; rs2291219

PubMed Link: 29221171

Variant Present in the following documents:

oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2291219

PubMed Link: 28690861

Variant Present in the following documents:

hgv201727-s1.xls, sheet 1

View BVdb publication page

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: SBSPON: W186R; rs2291219

PubMed Link: 28009986

Variant Present in the following documents:

oncotarget-08-22741-s003.xlsx, sheet 1

View BVdb publication page

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: SBSPON: W186R; rs2291219

PubMed Link: 27512948

Variant Present in the following documents:

PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: SBSPON: W186R; rs2291219

PubMed Link: 27251275

Variant Present in the following documents:

NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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: C8orf84: W186R; rs2291219

PubMed Link: 26549847

Variant Present in the following documents:

mmc3.xlsx, sheet 1

mmc3.xlsx, sheet 2

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: SBSPON: W186R

PubMed Link: 26206375

Variant Present in the following documents:

12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: C8orf84: W186R; rs2291219

PubMed Link: 25944692

Variant Present in the following documents:

oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: SBSPON: W186R; rs2291219

PubMed Link: 25887915

Variant Present in the following documents:

12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: SBSPON: W186R

PubMed Link: 25496518

Variant Present in the following documents:

40246_2014_20_MOESM1_ESM.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: SBSPON: W186R; rs2291219

PubMed Link: 25390934

Variant Present in the following documents:

pone.0112430.s004.xlsx, sheet 1

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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: SBSPON: W186R; rs2291219

PubMed Link: 25352556

Variant Present in the following documents:

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11

supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: C8orf84: Trp186Arg

PubMed Link: 25333361

Variant Present in the following documents:

pone.0109576.s002.xls, sheet 3

pone.0109576.s001.xls, sheet 3

pone.0109576.s003.xls, sheet 3

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: C8orf84: W186R

PubMed Link: 24705254

Variant Present in the following documents:

NIHMS4215-supplement-10.xlsx, sheet 2

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: C8orf84: W186R; rs2291219

PubMed Link: 24219164

Variant Present in the following documents:

cas0105-0202-SD2.xlsx, sheet 1

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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: rs2291219

PubMed Link: 23819521

Variant Present in the following documents:

1471-2164-14-S3-S7-S1.xlsx, sheet 2

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