Variant ID: 16-89985883-A-T

NM_002386.3(MC1R):c.217A>T;(p.Met73Leu)

This variant was identified in 1 publication




Publications:


Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Oncotarget
VA Lasorsa, D Formicola, P Pignataro, F Cimmino, FM Calabrese, J Mora, MR Esposito, M Pantile, C Zanon, M De Mariano, L Longo, MD Hogarty, C de Torres, GP Tonini, A Iolascon, M Capasso
Publication Date: 2016-04-19

Variant appearance in text: rs371458749
PubMed Link: 27009842
PubMed Central Link
Variant Present in the following documents:
  • oncotarget-07-21840-s008.xlsx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.563A>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.217A>T p.Met73Leu missense_variant 1/1 -
ENST00000555427.1 c.217A>T p.Met73Leu missense_variant 3/4 -
ENST00000556922.1 c.217A>T p.Met73Leu missense_variant 1/5 -
NM_002386.3 c.217A>T p.Met73Leu missense_variant 1/1 -