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BDNF c.380G>T ;(p.R127L)
Variant ID: 11-27679732-C-A
NM_001709.4(
BDNF
):c.380G>T;(p.R127L)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
New Frontiers in Neurodegeneration and Regeneration Associated with Brain-Derived Neurotrophic Factor and the rs6265 Single Nucleotide Polymorphism.
International Journal Of Molecular Sciences
Szarowicz, Carlye A CA; Steece-Collier, Kathy K; Caulfield, Margaret E ME
Publication Date: 2022-07-20
Variant appearance in text: BDNF: Arg127Leu; rs1048221
PubMed Link:
35887357
Variant Present in the following documents:
Main text
ijms-23-08011.pdf
View BVdb publication page
Reduction in BDNF from Inefficient Precursor Conversion Influences Nest Building and Promotes Depressive-Like Behavior in Mice.
International Journal Of Molecular Sciences
Kojima, Masami M; Otabi, Hikari H; Kumanogoh, Haruko H; Toyoda, Atsushi A; Ikawa, Masahito M; Okabe, Masaru M; Mizui, Toshiyuki T
Publication Date: 2020-06-01
Variant appearance in text: BDNF: R127L; rs1048221
PubMed Link:
32492978
Variant Present in the following documents:
Main text
ijms-21-03984.pdf
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: BDNF: R127L
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
The regulated secretory pathway and human disease: insights from gene variants and single nucleotide polymorphisms.
Frontiers In Endocrinology
Lin, Wei-Jye WJ; Salton, Stephen R SR
Publication Date: 2013
Variant appearance in text: BDNF: Arg127Leu; rs1048221
PubMed Link:
23964269
Variant Present in the following documents:
Main text
fendo-04-00096.pdf
View BVdb publication page
Multiple functions of precursor BDNF to CNS neurons: negative regulation of neurite growth, spine formation and cell survival.
Molecular Brain
Koshimizu, Hisatsugu H; Kiyosue, Kazuyuki K; Hara, Tomoko T; Hazama, Shunsuke S; Suzuki, Shingo S; Uegaki, Koichi K; Nagappan, Guhan G; Zaitsev, Eugene E; Hirokawa, Takatsugu T; Tatsu, Yoshiro Y; Ogura, Akihiko A; Lu, Bai B; Kojima, Masami M
Publication Date: 2009-08-13
Variant appearance in text: BDNF: Arg127Leu; rs1048221
PubMed Link:
19674479
Variant Present in the following documents:
Main text
1756-6606-2-27.pdf
View BVdb publication page
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03
Variant appearance in text: BDNF: R127L; rs1048221
PubMed Link:
19139070
Variant Present in the following documents:
gkn1008_nar-01723-s-2008-File009.xls, sheet 5
View BVdb publication page
Genetic variants in brain-derived neurotrophic factor associated with Alzheimer's disease.
Journal Of Medical Genetics
Huang, R R; Huang, J J; Cathcart, H H; Smith, S S; Poduslo, S E SE
Publication Date: 2007-02
Variant appearance in text: BDNF: Arg127Leu; rs1048221
PubMed Link:
17293537
Variant Present in the following documents:
Main text
View BVdb publication page