SLC18A1 c.293G>C ;(p.S98T)

Variant ID: 8-20036827-C-G

NM_003053.3(SLC18A1):c.293G>C;(p.S98T)

This variant was identified in 24 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: SLC18A1: S98T
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
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A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
Publication Date: 2021-10-09

Variant appearance in text: rs2270637
PubMed Link: 34627165
Variant Present in the following documents:
  • 12868_2021_662_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: SLC18A1: 293G>C; S98T; rs2270637
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic and molecular biology of autism spectrum disorder among Middle East population: a review.

Human Genomics
Rahmani, Zahra Z; Fayyazi Bordbar, Mohammad Reza MR; Dibaj, Mohsen M; Alimardani, Maliheh M; Moghbeli, Meysam M
Publication Date: 2021-03-12

Variant appearance in text: rs2270637
PubMed Link: 33712060
Variant Present in the following documents:
  • Main text
  • 40246_2021_Article_319.pdf
View BVdb publication page



Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.

Pharmacology & Therapeutics
Bhat, Shreyas S; El-Kasaby, Ali A; Freissmuth, Michael M; Sucic, Sonja S
Publication Date: 2021-06

Variant appearance in text: VMAT1: S98T
PubMed Link: 33310157
Variant Present in the following documents:
  • EMS142927.pdf
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: SLC18A1: S98T; rs2270637
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.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: SLC18A1: S98T; rs2270637
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
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: SLC18A1: S98T; rs2270637
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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: SLC18A1: S98T; rs2270637
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Targeted exome sequencing for the identification of a protective variant against Internet gaming disorder at rs2229910 of neurotrophic tyrosine kinase receptor, type 3 (NTRK3): A pilot study.

Journal Of Behavioral Addictions
Kim, Jeong-Yu JY; Jeong, Jo-Eun JE; Rhee, Je-Keun JK; Cho, Hyun H; Chun, Ji-Won JW; Kim, Tae-Min TM; Choi, Sam-Wook SW; Choi, Jung-Seok JS; Kim, Dai-Jin DJ
Publication Date: 2016-12

Variant appearance in text: rs2270637
PubMed Link: 27826991
Variant Present in the following documents:
  • Main text
  • jba-05-04-631.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: rs2270637
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: SLC18A1: S98T; rs2270637
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
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: SLC18A1: S98T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: SLC18A1: S98T; rs2270637
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: SLC18A1: S98T; rs2270637
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: SLC18A1: S98T; rs2270637
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



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: SLC18A1: S98T
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s003.xls, sheet 3
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: SLC18A1: S98T; rs2270637
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Functional genetic variants in the vesicular monoamine transporter 1 modulate emotion processing.

Molecular Psychiatry
Lohoff, F W FW; Hodge, R R; Narasimhan, S S; Nall, A A; Ferraro, T N TN; Mickey, B J BJ; Heitzeg, M M MM; Langenecker, S A SA; Zubieta, J-K JK; Bogdan, R R; Nikolova, Y S YS; Drabant, E E; Hariri, A R AR; Bevilacqua, L L; Goldman, D D; Doyle, G A GA
Publication Date: 2014-01

Variant appearance in text: VMAT1: Ser98Thr; rs2270637
PubMed Link: 23337945
Variant Present in the following documents:
  • Main text
  • nihms422106.pdf
View BVdb publication page



Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Human Molecular Genetics
Yu, Yi Y; Bhangale, Tushar R TR; Fagerness, Jesen J; Ripke, Stephan S; Thorleifsson, Gudmar G; Tan, Perciliz L PL; Souied, Eric H EH; Richardson, Andrea J AJ; Merriam, Joanna E JE; Buitendijk, Gabriëlle H S GH; Reynolds, Robyn R; Raychaudhuri, Soumya S; Chin, Kimberly A KA; Sobrin, Lucia L; Evangelou, Evangelos E; Lee, Phil H PH; Lee, Aaron Y AY; Leveziel, Nicolas N; Zack, Donald J DJ; Campochiaro, Betsy B; Campochiaro, Peter P; Smith, R Theodore RT; Barile, Gaetano R GR; Guymer, Robyn H RH; Hogg, Ruth R; Chakravarthy, Usha U; Robman, Luba D LD; Gustafsson, Omar O; Sigurdsson, Haraldur H; Ortmann, Ward W; Behrens, Timothy W TW; Stefansson, Kari K; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Vingerling, Johannes R JR; Klaver, Caroline C W CC; Allikmets, Rando R; Brantley, Milam A MA; Baird, Paul N PN; Katsanis, Nicholas N; Thorsteinsdottir, Unnur U; Ioannidis, John P A JP; Daly, Mark J MJ; Graham, Robert R RR; Seddon, Johanna M JM
Publication Date: 2011-09-15

Variant appearance in text: rs2270637
PubMed Link: 21665990
Variant Present in the following documents:
View BVdb publication page



Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia.

The American Journal Of Psychiatry
Greenwood, Tiffany A TA; Lazzeroni, Laura C LC; Murray, Sarah S SS; Cadenhead, Kristin S KS; Calkins, Monica E ME; Dobie, Dorcas J DJ; Green, Michael F MF; Gur, Raquel E RE; Gur, Ruben C RC; Hardiman, Gary G; Kelsoe, John R JR; Leonard, Sherry S; Light, Gregory A GA; Nuechterlein, Keith H KH; Olincy, Ann A; Radant, Allen D AD; Schork, Nicholas J NJ; Seidman, Larry J LJ; Siever, Larry J LJ; Silverman, Jeremy M JM; Stone, William S WS; Swerdlow, Neal R NR; Tsuang, Debby W DW; Tsuang, Ming T MT; Turetsky, Bruce I BI; Freedman, Robert R; Braff, David L DL
Publication Date: 2011-09

Variant appearance in text: rs2270637
PubMed Link: 21498463
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population.

Behavioral And Brain Functions : Bbf
Richards, Misty M; Iijima, Yoshimi Y; Kondo, Hitomi H; Shizuno, Tomoko T; Hori, Hiroaki H; Arima, Kunimasa K; Saitoh, Osamu O; Kunugi, Hiroshi H
Publication Date: 2006-11-30

Variant appearance in text: rs2270637
PubMed Link: 17134514
Variant Present in the following documents:
  • Main text
  • 1744-9081-2-39.pdf
View BVdb publication page



Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Lohoff, Falk W FW; Dahl, John P JP; Ferraro, Thomas N TN; Arnold, Steven E SE; Gallinat, Jürgen J; Sander, Thomas T; Berrettini, Wade H WH
Publication Date: 2006-12

Variant appearance in text: rs2270637
PubMed Link: 16936705
Variant Present in the following documents:
  • Main text
View BVdb publication page