Variant ID: 16-89985947-A-C

NM_002386.3(MC1R):c.281A>C;(p.Glu94Ala)

This variant was identified in 2 publications




Publications:


The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling.

Plos One
T Benned-Jensen, J Mokrosinski, MM Rosenkilde
Publication Date: 2011

Variant appearance in text: MC1R: E94A
PubMed Link: 21931793
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis for the interaction of [Nle4,D-Phe7]melanocyte stimulating hormone with the human melanocortin-1 receptor.

The Journal Of Biological Chemistry
Yk Yang, C Dickinson, C Haskell-Luevano, I Gantz
Publication Date: 1997-09-12

Variant appearance in text: MC1R: E94A
PubMed Link: 9287296
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.627A>C - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.281A>C p.Glu94Ala missense_variant 1/1 -
ENST00000555427.1 c.281A>C p.Glu94Ala missense_variant 3/4 -
ENST00000556922.1 c.281A>C p.Glu94Ala missense_variant 1/5 -
NM_002386.3 c.281A>C p.Glu94Ala missense_variant 1/1 -