Variant ID: 17-19861659-A-G


This variant was identified in 1 publication


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: AKAP10: Leu182Pro
PubMed Link: 29433456
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000225737.6 c.545T>C p.Leu182Pro missense_variant 4/15 -
ENST00000395536.3 c.545T>C p.Leu182Pro missense_variant 4/14 -
ENST00000572155.1 n.567T>C - non_coding_transcript_exon_variant 4/4 -
ENST00000582611.1 c.*88T>C - 3_prime_UTR_variant,NMD_transcript_variant 4/7 -
NM_001330152.1 c.545T>C p.Leu182Pro missense_variant 4/14 -
NM_007202.4 c.545T>C p.Leu182Pro missense_variant 4/15 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -