Variant ID: 15-86124141-C-T

NM_007200.4(AKAP13):c.2842C>T;(p.Gln948*)

This variant was identified in 1 publication




Publications:


Exome sequencing of primary breast cancers with paired metastatic lesions reveals metastasis-enriched mutations in the A-kinase anchoring protein family (AKAPs).

Bmc Cancer
U Kjällquist, R Erlandsson, NP Tobin, A Alkodsi, I Ullah, G Stålhammar, E Karlsson, T Hatschek, J Hartman, S Linnarsson, J Bergh
Publication Date: 2018-02-12

Variant appearance in text: AKAP13: Gln948X
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000361243.2 c.2842C>T p.Gln948* stop_gained 7/37 -
ENST00000394518.2 c.2842C>T p.Gln948* stop_gained 7/37 -
ENST00000559362.1 c.2842C>T p.Gln948* stop_gained 7/15 -
NM_006738.6 c.2842C>T p.Gln948* stop_gained 7/37 -
NM_007200.5 c.2842C>T p.Gln948* stop_gained 7/37 -