Variant ID: 16-89986249-TT-GC

NM_002386.3(MC1R):c.583_584delinsGC;(p.Phe195Ala)

This variant was identified in 1 publication




Publications:


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: F195A
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.929_930delinsGC - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.970_971delinsGC - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.583_584delinsGC p.Phe195Ala missense_variant 1/1 -
ENST00000555427.1 c.583_584delinsGC p.Phe195Ala missense_variant 3/4 -
ENST00000556922.1 c.583_584delinsGC p.Phe195Ala missense_variant 1/5 -
NM_002386.3 c.583_584delinsGC p.Phe195Ala missense_variant 1/1 -