Variant ID: 16-89986558-T-C

NM_002386.3(MC1R):c.892T>C;(p.Tyr298His)

This variant was identified in 4 publications




Publications:


A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International
HH Hu, M Benfodda, N Dumaz, S Gazal, V Descamps, A Bourillon, N Basset-Seguin, A Riffault, K Ezzedine, M Bagot, A Bensussan, P Saiag, B Grandchamp, N Soufir
Publication Date: 2014

Variant appearance in text: MC1R: 892T>C; Y298H
PubMed Link: 24982914
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 925716.f1.pdf
View BVdb publication page



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: 892T>C; Tyr298His
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

The Journal Of Investigative Dermatology
M Ibarrola-Villava, M Peña-Chilet, MJ Llorca-Cardeñosa, S Oltra, CM Cadenas, J Bravo, G Ribas
Publication Date: 2014-04

Variant appearance in text: MC1R: Y298H
PubMed Link: 24335900
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Endocrinology
K Tan, ID Pogozheva, GS Yeo, D Hadaschik, JM Keogh, C Haskell-Leuvano, S O'Rahilly, HI Mosberg, IS Farooqi
Publication Date: 2009-01

Variant appearance in text: MC1R: Y298H
PubMed Link: 18801902
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.1238T>C - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.662A>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.892T>C p.Tyr298His missense_variant 1/1 -
ENST00000555427.1 c.892T>C p.Tyr298His missense_variant 3/4 -
ENST00000556922.1 c.892T>C p.Tyr298His missense_variant 1/5 -
NM_002386.3 c.892T>C p.Tyr298His missense_variant 1/1 -