SELP c.2346G>T ;(p.T782=)

Variant ID: 1-169562904-C-A

NM_003005.3(SELP):c.2346G>T;(p.T782=)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


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: SELP: T782T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
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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: SELP: T782T; rs6128
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
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: SELP: T782T; rs6128
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, 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: SELP: Thr782Thr; rs6128
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: SELP: T782T; rs6128
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Megakaryocyte and Platelet Transcriptomics for Discoveries in Human Health and Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Davizon-Castillo, Pavel P; Rowley, Jesse W JW; Rondina, Matthew T MT
Publication Date: 2020-06

Variant appearance in text: rs6128
PubMed Link: 32295424
Variant Present in the following documents:
  • Main text
  • atv-40-1432.pdf
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: SELP: T782T; rs6128
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Longitudinal RNA-Seq Analysis of the Repeatability of Gene Expression and Splicing in Human Platelets Identifies a Platelet SELP Splice QTL.

Circulation Research
Rondina, Matthew T MT; Voora, Deepak D; Simon, Lukas M LM; Schwertz, Hansjörg H; Harper, Julie F JF; Lee, Olivia O; Bhatlekar, Seema C SC; Li, Qing Q; Eustes, Alicia S AS; Montenont, Emilie E; Campbell, Robert A RA; Tolley, Neal D ND; Kosaka, Yasuhiro Y; Weyrich, Andrew S AS; Bray, Paul F PF; Rowley, Jesse W JW
Publication Date: 2020-02-14

Variant appearance in text: rs6128
PubMed Link: 31852401
Variant Present in the following documents:
  • Main text
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: SELP: T782T; rs6128
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



Unraveling the role of genetics in the pathogenesis of diabetic retinopathy.

Eye (London, England)
Sharma, Ashok A; Valle, Maria L ML; Beveridge, Connor C; Liu, Yutao Y; Sharma, Shruti S
Publication Date: 2019-04

Variant appearance in text: rs6128
PubMed Link: 30679875
Variant Present in the following documents:
  • Main text
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: rs6128
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.

Diabetes
Pollack, Samuela S; Igo, Robert P RP; Jensen, Richard A RA; Christiansen, Mark M; Li, Xiaohui X; Cheng, Ching-Yu CY; Ng, Maggie C Y MCY; Smith, Albert V AV; Rossin, Elizabeth J EJ; Segrè, Ayellet V AV; Davoudi, Samaneh S; Tan, Gavin S GS; Chen, Yii-Der Ida YI; Kuo, Jane Z JZ; Dimitrov, Latchezar M LM; Stanwyck, Lynn K LK; Meng, Weihua W; Hosseini, S Mohsen SM; Imamura, Minako M; Nousome, Darryl D; Kim, Jihye J; Hai, Yang Y; Jia, Yucheng Y; Ahn, Jeeyun J; Leong, Aaron A; Shah, Kaanan K; Park, Kyu Hyung KH; Guo, Xiuqing X; Ipp, Eli E; Taylor, Kent D KD; Adler, Sharon G SG; Sedor, John R JR; Freedman, Barry I BI; , ; Lee, I-Te IT; Sheu, Wayne H-H WH; Kubo, Michiaki M; Takahashi, Atsushi A; Hadjadj, Samy S; Marre, Michel M; Tregouet, David-Alexandre DA; Mckean-Cowdin, Roberta R; Varma, Rohit R; McCarthy, Mark I MI; Groop, Leif L; Ahlqvist, Emma E; Lyssenko, Valeriya V; Agardh, Elisabet E; Morris, Andrew A; Doney, Alex S F ASF; Colhoun, Helen M HM; Toppila, Iiro I; Sandholm, Niina N; Groop, Per-Henrik PH; Maeda, Shiro S; Hanis, Craig L CL; Penman, Alan A; Chen, Ching J CJ; Hancock, Heather H; Mitchell, Paul P; Craig, Jamie E JE; Chew, Emily Y EY; Paterson, Andrew D AD; Grassi, Michael A MA; Palmer, Colin C; Bowden, Donald W DW; Yaspan, Brian L BL; Siscovick, David D; Cotch, Mary Frances MF; Wang, Jie Jin JJ; Burdon, Kathryn P KP; Wong, Tien Y TY; Klein, Barbara E K BEK; Klein, Ronald R; Rotter, Jerome I JI; Iyengar, Sudha K SK; Price, Alkes L AL; Sobrin, Lucia L
Publication Date: 2019-02

Variant appearance in text: rs6128
PubMed Link: 30487263
Variant Present in the following documents:
  • Main text
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: SELP: T782T; rs6128
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 6
  • MGG3-6-739-s002.xlsx, sheet 5
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



IGF1 gene polymorphisms associated with diabetic retinopathy risk in Chinese Han population.

Oncotarget
Zhang, Jian J; Chen, Xiao X; Zhang, Like L; Peng, Yi Y
Publication Date: 2017-10-20

Variant appearance in text: rs6128
PubMed Link: 29152139
Variant Present in the following documents:
  • Main text
  • oncotarget-08-88034.pdf
View BVdb publication page



Increased Soluble VCAM-1 and Normal P-Selectin in Cystic Fibrosis: a Cross-Sectional Study.

Lung
Nowak, Jan K JK; Wojsyk-Banaszak, Irena I; Mądry, Edyta E; Wykrętowicz, Andrzej A; Krzyżanowska, Patrycja P; Drzymała-Czyż, Sławomira S; Nowicka, Agata A; Pogorzelski, Andrzej A; Sapiejka, Ewa E; Skorupa, Wojciech W; Szczepanik, Mariusz M; Lisowska, Aleksandra A; Walkowiak, Jaroslaw J
Publication Date: 2017-08

Variant appearance in text: rs6128
PubMed Link: 28646244
Variant Present in the following documents:
  • Main text
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: SELP: T782T; rs6128
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Gene variants of adhesion molecules act as modifiers of disease severity in MS.

Neurology(R) Neuroimmunology & Neuroinflammation
Dardiotis, Efthimios E; Panayiotou, Elena E; Provatas, Antonios A; Christodoulou, Kyproula K; Hadjisavvas, Andreas A; Antoniades, Athos A; Lourbopoulos, Athanasios A; Pantzaris, Marios M; Grigoriadis, Nikolaos N; Hadjigeorgiou, Georgios M GM; Kyriakides, Theodoros T
Publication Date: 2017-07

Variant appearance in text: rs6128
PubMed Link: 28473999
Variant Present in the following documents:
  • NEURIMMINFL2016011809.pdf
View BVdb publication page



Candidate gene studies of diabetic retinopathy in human.

Molecular Biology Reports
Priščáková, Petra P; Minárik, Gabriel G; Repiská, Vanda V
Publication Date: 2016-12

Variant appearance in text: rs6128
PubMed Link: 27730450
Variant Present in the following documents:
  • Main text
  • 11033_2016_Article_4075.pdf
View BVdb publication page



Novel Genetic Actors of Diabetes-Associated Microvascular Complications: Retinopathy, Kidney Disease and Neuropathy.

The Review Of Diabetic Studies : Rds
Davoudi, Samaneh S; Sobrin, Lucia L
Publication Date: 2015

Variant appearance in text: rs6128
PubMed Link: 26859656
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-Gene Associations with the Susceptibility of Kawasaki Disease and Coronary Artery Lesions.

Plos One
Kuo, Ho-Chang HC; Chang, Jen-Chieh JC; Guo, Mindy Ming-Huey MM; Hsieh, Kai-Sheng KS; Yeter, Deniz D; Li, Sung-Chou SC; Yang, Kuender D KD
Publication Date: 2015

Variant appearance in text: rs6128
PubMed Link: 26619243
Variant Present in the following documents:
  • Main text
  • pone.0143056.pdf
View BVdb publication page



P-selectin Plasma Levels and Genetic Variant Associated With Diabetic Retinopathy in African Americans.

American Journal Of Ophthalmology
Penman, Alan A; Hoadley, Suzanne S; Wilson, James G JG; Taylor, Herman A HA; Chen, Ching J CJ; Sobrin, Lucia L
Publication Date: 2015-06

Variant appearance in text: rs6128
PubMed Link: 25794792
Variant Present in the following documents:
  • Main text
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: SELP: T782T; rs6128
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: SELP: T782T; rs6128
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



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: SELP: T782T; rs6128
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Simultaneous analysis of multiple data types in pharmacogenomic studies using weighted sparse canonical correlation analysis.

Omics : A Journal Of Integrative Biology
Chalise, Prabhakar P; Batzler, Anthony A; Abo, Ryan R; Wang, Liewei L; Fridley, Brooke L BL
Publication Date: 2012

Variant appearance in text: rs6128
PubMed Link: 22734853
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).

Investigative Ophthalmology & Visual Science
Sobrin, Lucia L; Green, Todd T; Sim, Xueling X; Jensen, Richard A RA; Tai, E Shyong ES; Tay, Wan Ting WT; Wang, Jie Jin JJ; Mitchell, Paul P; Sandholm, Niina N; Liu, Yiyuan Y; Hietala, Kustaa K; Iyengar, Sudha K SK; , ; Brooks, Matthew M; Buraczynska, Monika M; Van Zuydam, Natalie N; Smith, Albert V AV; Gudnason, Vilmundur V; Doney, Alex S F AS; Morris, Andrew D AD; Leese, Graham P GP; Palmer, Colin N A CN; , ; Swaroop, Anand A; Taylor, Herman A HA; Wilson, James G JG; Penman, Alan A; Chen, Ching J CJ; Groop, Per-Henrik PH; Saw, Seang-Mei SM; Aung, Tin T; Klein, Barbara E BE; Rotter, Jerome I JI; Siscovick, David S DS; Cotch, Mary Frances MF; Klein, Ronald R; Daly, Mark J MJ; Wong, Tien Y TY
Publication Date: 2011-09-29

Variant appearance in text: rs6128
PubMed Link: 21873659
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in the upstream region of P-Selectin (SELP) is a risk factor for SLE.

Genes And Immunity
Morris, D L DL; Graham, R R RR; Erwig, L-P LP; Gaffney, P M PM; Moser, K L KL; Behrens, T W TW; Vyse, T J TJ; Graham, D S Cunninghame DS
Publication Date: 2009-07

Variant appearance in text: rs6128
PubMed Link: 19404301
Variant Present in the following documents:
  • Main text
  • gene200917a.pdf
View BVdb publication page



Soluble P-selectin, SELP polymorphisms, and atherosclerotic risk in European-American and African-African young adults: the Coronary Artery Risk Development in Young Adults (CARDIA) Study.

Arteriosclerosis, Thrombosis, And Vascular Biology
Reiner, Alexander P AP; Carlson, Christopher S CS; Thyagarajan, Bharat B; Rieder, Mark J MJ; Polak, Joseph F JF; Siscovick, David S DS; Nickerson, Deborah A DA; Jacobs, David R DR; Gross, Myron D MD
Publication Date: 2008-08

Variant appearance in text: rs6128
PubMed Link: 18535285
Variant Present in the following documents:
  • Main text
View BVdb publication page