Variant ID: 15-86279361-G-A

NM_007200.4(AKAP13):c.7553G>A;(p.Ser2518Asn)

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: AKAP13: Ser2518Asn
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000361243.2 c.7565G>A p.Ser2522Asn missense_variant 33/37 -
ENST00000394510.2 c.2288G>A p.Ser763Asn missense_variant 20/24 -
ENST00000394518.2 c.7553G>A p.Ser2518Asn missense_variant 33/37 -
ENST00000559391.1 n.73G>A - non_coding_transcript_exon_variant 2/3 -
ENST00000560579.1 n.3401G>A - non_coding_transcript_exon_variant 26/30 -
NM_001270546.1 c.3416G>A p.Ser1139Asn missense_variant 25/29 -
NM_006738.6 c.7565G>A p.Ser2522Asn missense_variant 33/37 -
NM_007200.5 c.7553G>A p.Ser2518Asn missense_variant 33/37 -