Variant ID: 16-89986561-G-A

NM_002386.3(MC1R):c.895G>A;(p.Ala299Thr)

This variant was identified in 6 publications




Publications:


The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Neurobiology Of Aging
Z Gan-Or, N Mohsin, SL Girard, JY Montplaisir, A Ambalavanan, S Strong, V Mallett, SB Laurent, CV Bourassa, M Boivin, M Langlois, I Arnulf, B Högl, B Frauscher, C Monaca, A Desautels, JF Gagnon, RB Postuma, PA Dion, Y Dauvilliers, N Dupre, RN Alcalay, GA Rouleau
Publication Date: 2016-07

Variant appearance in text: MC1R: 895G>A; A299T; rs370472871
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
  • NIHMS776338-supplement-1.docx
View BVdb publication page



Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One
D Hepp, GL Gonçalves, TR de Freitas
Publication Date: 2015

Variant appearance in text: MC1R: A299T; rs370472871
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • pone.0121812.s001.doc
View BVdb publication page



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: 895G>A; A299T
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: 895G>A; Ala299Thr
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Genetic variations associated with red hair color and fear of dental pain, anxiety regarding dental care and avoidance of dental care.

Journal Of The American Dental Association (1939)
CJ Binkley, A Beacham, W Neace, RG Gregg, EB Liem, DI Sessler
Publication Date: 2009-07

Variant appearance in text: MC1R: A299T
PubMed Link: 19571053
PubMed Central Link
Variant Present in the following documents:
  • NIHMS130872-supplement-Supplemental_Data.pdf
View BVdb publication page



Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.

Human Molecular Genetics
NF Box, JR Wyeth, LE O'Gorman, NG Martin, RA Sturm
Publication Date: 1997-10

Variant appearance in text: MC1R: A299T
PubMed Link: 9302268
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1241G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.659C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.895G>A p.Ala299Thr missense_variant 1/1 -
ENST00000555427.1 c.895G>A p.Ala299Thr missense_variant 3/4 -
ENST00000556922.1 c.895G>A p.Ala299Thr missense_variant 1/5 -
NM_002386.3 c.895G>A p.Ala299Thr missense_variant 1/1 -