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.




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