HTR2A c.1340C>T ;(p.A447V)

Variant ID: 13-47409048-G-A

NM_000621.4(HTR2A):c.1340C>T;(p.A447V)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Dynamic spatiotemporal determinants modulate GPCR:G protein coupling selectivity and promiscuity.

Nature Communications
Sandhu, Manbir M; Cho, Aaron A; Ma, Ning N; Mukhaleva, Elizaveta E; Namkung, Yoon Y; Lee, Sangbae S; Ghosh, Soumadwip S; Lee, John H JH; Gloriam, David E DE; Laporte, Stéphane A SA; Babu, M Madan MM; Vaidehi, Nagarajan N
Publication Date: 2022-12-02

Variant appearance in text: rs6308
PubMed Link: 36460632
Variant Present in the following documents:
  • 41467_2022_34055_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: HTR2A: A447V
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 63
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: HTR2A: A447V
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Plos One
Coll, Monica M; Striano, Pasquale P; Ferrer-Costa, Carles C; Campuzano, Oscar O; Matés, Jesús J; Del Olmo, Bernat B; Iglesias, Anna A; Pérez-Serra, Alexandra A; Mademont, Irene I; Picó, Ferran F; Oliva, Antonio A; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: HTR2A: 1340C>T; Ala447Val; rs6308
PubMed Link: 29261713
Variant Present in the following documents:
  • Main text
  • pone.0189618.pdf
View BVdb publication page



Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder.

Nature Communications
Noh, Hyun Ji HJ; Tang, Ruqi R; Flannick, Jason J; O'Dushlaine, Colm C; Swofford, Ross R; Howrigan, Daniel D; Genereux, Diane P DP; Johnson, Jeremy J; van Grootheest, Gerard G; Grünblatt, Edna E; Andersson, Erik E; Djurfeldt, Diana R DR; Patel, Paresh D PD; Koltookian, Michele M; M Hultman, Christina C; Pato, Michele T MT; Pato, Carlos N CN; Rasmussen, Steven A SA; Jenike, Michael A MA; Hanna, Gregory L GL; Stewart, S Evelyn SE; Knowles, James A JA; Ruhrmann, Stephan S; Grabe, Hans-Jörgen HJ; Wagner, Michael M; Rück, Christian C; Mathews, Carol A CA; Walitza, Susanne S; Cath, Daniëlle C DC; Feng, Guoping G; Karlsson, Elinor K EK; Lindblad-Toh, Kerstin K
Publication Date: 2017-10-17

Variant appearance in text: rs6308
PubMed Link: 29042551
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_831.pdf
View BVdb publication page



Polymorphisms in HTR2A and DRD4 Predispose to Smoking and Smoking Quantity.

Plos One
Pérez-Rubio, Gloria G; Ramírez-Venegas, Alejandra A; Noé Díaz, Valeri V; García Gómez, Leonor L; Elvira Fabián, Karina K; García Carmona, Salvador S; López-Flores, Luis A LA; Ambrocio-Ortiz, Enrique E; Contreras Romero, Rocío R; Alcantar-Ayala, Noé N; Sansores, Raúl H RH; Falfán-Valencia, Ramcés R
Publication Date: 2017

Variant appearance in text: rs6308
PubMed Link: 28103253
Variant Present in the following documents:
  • Main text
  • pone.0170019.pdf
View BVdb publication page



Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22

Variant appearance in text: HTR2A: 1340C>T; A447V; rs6308
PubMed Link: 28007035
Variant Present in the following documents:
  • 12881_2016_359_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: HTR2A: 1340C>T; A447V; rs6308
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: HTR2A: A447V; rs6308
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 9
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: HTR2A: A447V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs6308
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page



The role of the serotonergic system at the interface of aggression and suicide.

Neuroscience
Bortolato, M M; Pivac, N N; Muck Seler, D D; Nikolac Perkovic, M M; Pessia, M M; Di Giovanni, G G
Publication Date: 2013-04-16

Variant appearance in text: 5-HT2A: Ala447Val
PubMed Link: 23333677
Variant Present in the following documents:
  • Main text
View BVdb publication page



Machine learning techniques for single nucleotide polymorphism--disease classification models in schizophrenia.

Molecules (Basel, Switzerland)
Aguiar-Pulido, Vanessa V; Seoane, José A JA; Rabuñal, Juan R JR; Dorado, Julián J; Pazos, Alejandro A; Munteanu, Cristian R CR
Publication Date: 2010-07-12

Variant appearance in text: rs6308
PubMed Link: 20657396
Variant Present in the following documents:
  • Main text
  • molecules-15-04875.pdf
View BVdb publication page



Polymorphism in maternal LRP8 gene is associated with fetal growth.

American Journal Of Human Genetics
Wang, Lin L; Wang, Xiaobin X; Laird, Nan N; Zuckerman, Barry B; Stubblefield, Philip P; Xu, Xin X
Publication Date: 2006-05

Variant appearance in text: rs6308
PubMed Link: 16642433
Variant Present in the following documents:
  • Main text
View BVdb publication page