NSF c.814_815delinsGC ;(p.Q272A)

Variant ID: 17-44751848-CA-GC

NM_006178.3(NSF):c.814_815delinsGC;(p.Q272A)

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:

Dpr Acts as a molecular switch, inhibiting Wnt signaling when unphosphorylated, but promoting Wnt signaling when phosphorylated by casein kinase Idelta/epsilon.

Plos One
Teran, Evelyn E; Branscomb, Aron D AD; Seeling, Joni M JM
Publication Date: 2009

Variant appearance in text: NSF: Gln272Ala
PubMed Link: 19440376
Variant Present in the following documents:
  • Main text
  • pone.0005522.pdf
View BVdb publication page