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SYNE2 c.2560C>G ;(p.Q854E)
Variant ID: 14-64457747-C-G
NM_182914.2(
SYNE2
):c.2560C>G;(p.Q854E)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
SMAP is a pipeline for sample matching in proteogenomics.
Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08
Variant appearance in text: SYNE2: Q854E
PubMed Link:
35136070
Variant Present in the following documents:
41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: Nesprin-2: Q854E; rs34449017
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: SYNE2: Q854E
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s5.xls, 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: SYNE2: Q854E; rs34449017
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 9
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: SYNE2: Q854E; rs34449017
PubMed Link:
25773295
Variant Present in the following documents:
srep09124-s3.xls, sheet 1
View BVdb publication page