SMN1 c.82_83delinsGC ;(p.S28A)

Variant ID: 5-70234666-AG-GC

NM_000344.3(SMN1):c.82_83delinsGC;(p.S28A)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Towards an understanding of regulating Cajal body activity by protein modification.

Rna Biology
Hebert, Michael D MD; Poole, Aaron R AR
Publication Date: 2017-06-03

Variant appearance in text: SMA: S28A
PubMed Link: 27819531
Variant Present in the following documents:
  • Main text
View BVdb publication page


Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs.

Embo Reports
Grimmler, Matthias M; Bauer, Liane L; Nousiainen, Marjaana M; Körner, Roman R; Meister, Gunter G; Fischer, Utz U
Publication Date: 2005-01

Variant appearance in text: SMA: S28A
PubMed Link: 15592453
Variant Present in the following documents:
  • Main text
View BVdb publication page