Variant ID: 14-64935761-G-A

NM_004857.3(AKAP5):c.649G>A;(p.Asp217Asn)

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: AKAP5: Asp217Asn
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000320636.5 c.649G>A p.Asp217Asn missense_variant 1/1 -
ENST00000394718.4 c.649G>A p.Asp217Asn missense_variant 2/2 -
ENST00000555220.1 c.174-19405C>T - intron_variant - 2/2
ENST00000555424.1 c.256+18071C>T - intron_variant - 2/2
NM_001304508.1 c.174-19405C>T - intron_variant - 2/2
NM_004857.3 c.649G>A p.Asp217Asn missense_variant 2/2 -