PMID: 29433456

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
2018-02-12

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-86124141-C-T AKAP13 c.2842C>T p.Gln948* Nonsense 7/37 -
15-86122728-G-A AKAP13 c.1429G>A p.Asp477Asn Missense 7/37 -
17-19861659-A-G AKAP10 c.545T>C p.Leu182Pro Missense 4/15 -
15-86279361-G-A AKAP13 c.7553G>A p.Ser2518Asn Missense 33/37 -
13-42875448-G-A AKAP11 c.2566G>A p.Asp856Asn Missense 8/13 -
6-151671474-G-A AKAP12 c.1948G>A p.Ala650Thr Missense 4/5 -
X-49958128-G-T AKAP4 c.1236C>A p.Phe412Leu Missense 5/6 -
17-19812541-T-C AKAP10 c.1936A>G p.Ile646Val Missense 14/15 -
12-4725047-G-A AKAP3 c.2420C>T p.Ser807Leu Missense 6/6 -
6-151670403-G-C AKAP12 c.877G>C p.Gly293Arg Missense 4/5 -
7-91630327-A-G AKAP9 c.1096A>G p.Ile366Val Missense 8/50 -
X-49958130-A-G AKAP4 c.1234T>C p.Phe412Leu Missense 5/6 -
14-64935761-G-A AKAP5 c.649G>A p.Asp217Asn Missense 2/2 -
14-33293693-G-A AKAP6 c.6674G>A p.Gly2225Glu Missense 13/14 -
6-151670403-G-A AKAP12 c.877G>A p.Gly293Arg Missense 4/5 -
X-49958128-G-C AKAP4 c.1236C>G p.Phe412Leu Missense 5/6 -
19-15484018-G-A AKAP8 c.505C>T p.Gln169* Nonsense 5/14 -