SMN1 c.784_785delinsGC ;(p.S262A)

Variant ID: 5-70241953-AG-GC

NM_000344.3(SMN1):c.784_785delinsGC;(p.S262A)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Phosphorylation of connexin 43 at MAPK, PKC or CK1 sites each distinctly alter the kinetics of epidermal wound repair.

Journal Of Cell Science
Lastwika, Kristin J KJ; Dunn, Clarence A CA; Solan, Joell L JL; Lampe, Paul D PD
Publication Date: 2019-09-23

Variant appearance in text: SMA: S262A
PubMed Link: 31427427
Variant Present in the following documents:
  • Main text
View BVdb publication page