Variant ID: 19-15484018-G-A

NM_005858.3(AKAP8):c.505C>T;(p.Gln169*)

This variant was identified in 1 publication



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

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: AKAP8: Gln169X
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000269701.2 c.505C>T p.Gln169* stop_gained 5/14 -
ENST00000537303.1 n.203C>T - non_coding_transcript_exon_variant 2/8 -
ENST00000599883.1 c.225C>T p.Gly75= synonymous_variant,NMD_transcript_variant 4/7 -
NM_005858.4 c.505C>T p.Gln169* stop_gained 5/14 -