Variant ID: 16-89985669-G-A

NM_002386.3(MC1R):c.3G>A;(p.Met1?)

This variant was identified in 3 publications




Publications:


The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response.

Oncotarget
R Pinto, S De Summa, S Strippoli, B Pilato, A Azzariti, G Guida, M Guida, S Tommasi
Publication Date: 2016-05-03

Variant appearance in text: MC1R: Met1Ile
PubMed Link: 26863566
PubMed Central Link
Variant Present in the following documents:
  • oncotarget-07-25135-s002.doc
View BVdb publication page



Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One
D Hepp, GL Gonçalves, TR de Freitas
Publication Date: 2015

Variant appearance in text: rs376929501
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • pone.0121812.s001.doc
View BVdb publication page



MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

Pigment Cell & Melanoma Research
JC García-Borrón, Z Abdel-Malek, C Jiménez-Cervantes
Publication Date: 2014-09

Variant appearance in text: MC1R: 3G>A; Met1Ile
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.349G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.3G>A p.Met1? start_lost 1/1 -
ENST00000555427.1 c.3G>A p.Met1? start_lost 3/4 -
ENST00000556922.1 c.3G>A p.Met1? start_lost 1/5 -
NM_002386.3 c.3G>A p.Met1? start_lost 1/1 -