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FLNB c.512T>A ;(p.L171Q)
Variant ID: 3-58062992-T-A
NM_001457.3(
FLNB
):c.512T>A;(p.L171Q)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: FLNB: L171Q
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: FLNB: L171Q; rs80356494
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM7_ESM.xlsx, sheet 1
13073_2017_454_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domain.
American Journal Of Physiology. Cell Physiology
Zhao, Yongtong Y; Shapiro, Sandor S SS; Eto, Masumi M
Publication Date: 2016-01-01
Variant appearance in text: FLNB: L171Q
PubMed Link:
26491051
Variant Present in the following documents:
Main text
View BVdb publication page