Variant ID: 12-4725047-G-A

NM_006422.3(AKAP3):c.2420C>T;(p.Ser807Leu)

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: AKAP3: Ser807Leu
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000228850.1 c.2420C>T p.Ser807Leu missense_variant 5/5 -
ENST00000536588.1 c.143+10795G>A - intron_variant,NMD_transcript_variant - 1/6
ENST00000545990.2 c.2420C>T p.Ser807Leu missense_variant 6/6 -
NM_001278309.2 c.2420C>T p.Ser807Leu missense_variant 6/6 -
NM_006422.3 c.2420C>T p.Ser807Leu missense_variant 6/6 -