Variant ID: 7-91630327-A-G

NM_005751.4(AKAP9):c.1096A>G;(p.Ile366Val)

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: AKAP9: Ile366Val
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000356239.3 c.1096A>G p.Ile366Val missense_variant 8/50 -
ENST00000358100.2 c.1132A>G p.Ile378Val missense_variant 9/49 -
ENST00000359028.2 c.1132A>G p.Ile378Val missense_variant 9/50 -
ENST00000493453.1 n.1316A>G - non_coding_transcript_exon_variant 9/19 -
NM_005751.4 c.1096A>G p.Ile366Val missense_variant 8/50 -
NM_147185.3 c.1096A>G p.Ile366Val missense_variant 8/50 -