Variant ID: 16-89985932-G-T


This variant was identified in 2 publications


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: 266G>T; Gly89Val
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page

In silico mutagenesis: a case study of the melanocortin 4 receptor.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Y Bromberg, J Overton, C Vaisse, RL Leibel, B Rost
Publication Date: 2009-09

Variant appearance in text: MC1R: G89V
PubMed Link: 19417090
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.612G>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.266G>T p.Gly89Val missense_variant 1/1 -
ENST00000555427.1 c.266G>T p.Gly89Val missense_variant 3/4 -
ENST00000556922.1 c.266G>T p.Gly89Val missense_variant 1/5 -
NM_002386.3 c.266G>T p.Gly89Val missense_variant 1/1 -