Variant ID: 6-151671474-G-A

NM_005100.3(AKAP12):c.1948G>A;(p.Ala650Thr)

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: AKAP12: Ala650Thr
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000253332.1 c.1948G>A p.Ala650Thr missense_variant 3/4 -
ENST00000354675.6 c.1654G>A p.Ala552Thr missense_variant 2/3 -
ENST00000359755.5 c.1633G>A p.Ala545Thr missense_variant 2/3 -
ENST00000402676.2 c.1948G>A p.Ala650Thr missense_variant 4/5 -
NM_001370346.1 c.1633G>A p.Ala545Thr missense_variant 2/3 -
NM_005100.4 c.1948G>A p.Ala650Thr missense_variant 4/5 -
NM_144497.2 c.1654G>A p.Ala552Thr missense_variant 2/3 -