SLC6A4 c.*1748C>A

Variant ID: 17-28523726-G-T

NM_001045.5(SLC6A4):c.*1748C>A

This variant was identified in 13 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: rs7224199
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs7224199
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The Computational Analysis Conducted on miRNA Target Sites in Association with SNPs at 3'UTR of ADHD-implicated Genes.

Central Nervous System Agents In Medicinal Chemistry
Abdi, Adel A; Zafarpiran, Mina M; Farsani, Zeinab S ZS
Publication Date: 2020

Variant appearance in text: rs7224199
PubMed Link: 31660846
Variant Present in the following documents:
  • Main text
  • CNSAMC-20-58.pdf
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: rs7224199
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



PPARA genetic variants increase the risk for cardiac pumping function reductions following acute high-altitude exposure: A self-controlled study.

Molecular Genetics & Genomic Medicine
Yang, Jie J; Liu, Chuan C; Jihang, Zhang Z; Yu, Jie J; Dai, Limeng L; Ding, Xiaohan X; Qiu, Youzhu Y; Yu, Sanjiu S; Yang, Yuanqi Y; Wu, Yuzhang Y; Huang, Lan L
Publication Date: 2019-10

Variant appearance in text: rs7224199
PubMed Link: 31407515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs7224199
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Association between polymorphisms in the human serotonin transporter gene and lifelong premature ejaculation in the Han population.

Asian Journal Of Andrology
Peng, Dang-Wei DW; Gao, Jing-Jing JJ; Huang, Yuan-Yuan YY; Tang, Dong-Dong DD; Gao, Pan P; Li, Chao C; Liu, Wei-Qun WQ; Dou, Xian-Ming XM; Mao, Jun J; Zhang, Yao Y; Geng, Hao H; Zhang, Xian-Sheng XS
Publication Date: 2018

Variant appearance in text: rs7224199
PubMed Link: 28139473
Variant Present in the following documents:
  • Main text
  • AJA-20-103.pdf
View BVdb publication page



Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology.

Frontiers In Neuroscience
Alexander, John J; Potamianou, Hera H; Xing, Jinchuan J; Deng, Li L; Karagiannidis, Iordanis I; Tsetsos, Fotis F; Drineas, Petros P; Tarnok, Zsanett Z; Rizzo, Renata R; Wolanczyk, Tomasz T; Farkas, Luca L; Nagy, Peter P; Szymanska, Urszula U; Androutsos, Christos C; Tsironi, Vaia V; Koumoula, Anastasia A; Barta, Csaba C; , ; Sandor, Paul P; Barr, Cathy L CL; Tischfield, Jay J; Paschou, Peristera P; Heiman, Gary A GA; Georgitsi, Marianthi M
Publication Date: 2016

Variant appearance in text: rs7224199
PubMed Link: 27708560
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 2
View BVdb publication page



Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease.

Journal Of Neurology, Neurosurgery, And Psychiatry
Kraemmer, Julia J; Smith, Kara K; Weintraub, Daniel D; Guillemot, Vincent V; Nalls, Mike A MA; Cormier-Dequaire, Florence F; Moszer, Ivan I; Brice, Alexis A; Singleton, Andrew B AB; Corvol, Jean-Christophe JC
Publication Date: 2016-10

Variant appearance in text: rs7224199
PubMed Link: 27076492
Variant Present in the following documents:
  • Main text
View BVdb publication page



A potentially functional variant in the serotonin transporter gene is associated with premenopausal and perimenopausal hot flashes.

Menopause (New York, N.Y.)
Montasser, May E ME; Ziv-Gal, Ayelet A; Brown, Jessica P JP; Flaws, Jodi A JA; Merchenthaler, Istvan I
Publication Date: 2015-01

Variant appearance in text: rs7224199
PubMed Link: 25026114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans.

Molecular Psychiatry
Dong, C C; Wong, M-L ML; Licinio, J J
Publication Date: 2009-12

Variant appearance in text: rs7224199
PubMed Link: 19844206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of SLC6A4 variants with obsessive-compulsive disorder in a large multicenter US family study.

Molecular Psychiatry
Voyiaziakis, E E; Evgrafov, O O; Li, D D; Yoon, H-J HJ; Tabares, P P; Samuels, J J; Wang, Y Y; Riddle, M A MA; Grados, M A MA; Bienvenu, O J OJ; Shugart, Y Y YY; Liang, K-Y KY; Greenberg, B D BD; Rasmussen, S A SA; Murphy, D L DL; Wendland, J R JR; McCracken, J T JT; Piacentini, J J; Rauch, S L SL; Pauls, D L DL; Nestadt, G G; Fyer, A J AJ; Knowles, J A JA
Publication Date: 2011-01

Variant appearance in text: rs7224199
PubMed Link: 19806148
Variant Present in the following documents:
  • Main text
  • nihms-139943.pdf
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Serotonin transporter polymorphisms in patients with portopulmonary hypertension.

Chest
Roberts, Kari E KE; Fallon, Michael B MB; Krowka, Michael J MJ; Benza, Raymond L RL; Knowles, James A JA; Badesch, David B DB; Brown, Robert S RS; Taichman, Darren B DB; Trotter, James J; Zacks, Steven S; Horn, Evelyn M EM; Kawut, Steven M SM; ,
Publication Date: 2009-06

Variant appearance in text: rs7224199
PubMed Link: 19141529
Variant Present in the following documents:
  • Main text
View BVdb publication page