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.




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