Variant ID: 16-89986243-G-T

NM_002386.3(MC1R):c.577G>T;(p.Val193Leu)

This variant was identified in 1 publication




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: 577G>T; Val193Leu
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.923G>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.977C>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.577G>T p.Val193Leu missense_variant 1/1 -
ENST00000555427.1 c.577G>T p.Val193Leu missense_variant 3/4 -
ENST00000556922.1 c.577G>T p.Val193Leu missense_variant 1/5 -
NM_002386.3 c.577G>T p.Val193Leu missense_variant 1/1 -