MC1R c.281A>C ;(p.E94A)

Variant ID: 16-89985947-A-C

NM_002386.3(MC1R):c.281A>C;(p.E94A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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

Plos One
Benned-Jensen, Tau T; Mokrosinski, Jacek J; Rosenkilde, Mette M MM
Publication Date: 2011

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