SMN1 c.127_128delinsGC ;(p.Y43A)

Variant ID: 5-70234711-TA-GC

NM_000344.3(SMN1):c.127_128delinsGC;(p.Y43A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural basis of proton-coupled potassium transport in the KUP family.

Nature Communications
Tascón, Igor I; Sousa, Joana S JS; Corey, Robin A RA; Mills, Deryck J DJ; Griwatz, David D; Aumüller, Nadine N; Mikusevic, Vedrana V; Stansfeld, Phillip J PJ; Vonck, Janet J; Hänelt, Inga I
Publication Date: 2020-01-31

Variant appearance in text: SMA: Y43A
PubMed Link: 32005818
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14441.pdf
View BVdb publication page



Solution structure of the core SMN-Gemin2 complex.

The Biochemical Journal
Sarachan, Kathryn L KL; Valentine, Kathleen G KG; Gupta, Kushol K; Moorman, Veronica R VR; Gledhill, John M JM; Bernens, Matthew M; Tommos, Cecilia C; Wand, A Joshua AJ; Van Duyne, Gregory D GD
Publication Date: 2012-08-01

Variant appearance in text: SMA: Y43A
PubMed Link: 22607171
Variant Present in the following documents:
  • Main text
View BVdb publication page