Variant ID: 6-151670403-G-C

NM_005100.3(AKAP12):c.877G>C;(p.Gly293Arg)

This variant was identified in 1 publication




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: Gly293Arg
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.877G>C p.Gly293Arg missense_variant 3/4 -
ENST00000354675.6 c.583G>C p.Gly195Arg missense_variant 2/3 -
ENST00000359755.5 c.562G>C p.Gly188Arg missense_variant 2/3 -
ENST00000402676.2 c.877G>C p.Gly293Arg missense_variant 4/5 -
NM_001370346.1 c.562G>C p.Gly188Arg missense_variant 2/3 -
NM_005100.4 c.877G>C p.Gly293Arg missense_variant 4/5 -
NM_144497.2 c.583G>C p.Gly195Arg missense_variant 2/3 -