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SECISBP2 c.1627_1628delinsCA ;(p.R543Q)
Variant ID: 9-91963018-AG-CA
NM_024077.3(
SECISBP2
):c.1627_1628delinsCA;(p.R543Q)
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:
High-Resolution Ribosome Profiling Reveals Gene-Specific Details of UGA Re-Coding in Selenoprotein Biosynthesis.
Biomolecules
Bohleber, Simon S; Fradejas-Villar, Noelia N; Zhao, Wenchao W; Reuter, Uschi U; Schweizer, Ulrich U
Publication Date: 2022-10-17
Variant appearance in text: SBP2: R543Q
PubMed Link:
36291713
Variant Present in the following documents:
Main text
biomolecules-12-01504.pdf
View BVdb publication page
Gained in translation: The power of digging deep into disease models.
The Journal Of Biological Chemistry
Copeland, Paul R PR
Publication Date: 2019-09-27
Variant appearance in text: SECISBP2: R543Q
PubMed Link:
31562227
Variant Present in the following documents:
Main text
View BVdb publication page
Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations.
The Journal Of Biological Chemistry
Zhao, Wenchao W; Bohleber, Simon S; Schmidt, Henrik H; Seeher, Sandra S; Howard, Michael T MT; Braun, Doreen D; Arndt, Simone S; Reuter, Uschi U; Wende, Hagen H; Birchmeier, Carmen C; Fradejas-Villar, Noelia N; Schweizer, Ulrich U
Publication Date: 2019-09-27
Variant appearance in text: SECISBP2: R543Q
PubMed Link:
31350336
Variant Present in the following documents:
Main text
View BVdb publication page