Variant ID: 16-89986503-C-A

NM_002386.3(MC1R):c.837C>A;(p.Asn279Lys)

This variant was identified in 13 publications




Publications:


A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics
K Zorina-Lichtenwalter, RN Lichtenwalter, DV Zaykin, M Parisien, S Gravel, A Bortsov, L Diatchenko
Publication Date: 2019-06-15

Variant appearance in text: rs202197434
PubMed Link: 30657907
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 837C>A; N279K; rs202197434
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
  • NIHMS776338-supplement-1.docx
View BVdb publication page



Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

Plos One
P Johansen, JD Andersen, LN Madsen, H Ullum, M Glud, C Børsting, R Gniadecki, N Morling
Publication Date: 2016

Variant appearance in text: MC1R: Asn279Lys; rs202197434
PubMed Link: 26938746
PubMed Central Link
Variant Present in the following documents:
  • pone.0150381.s002.docx
View BVdb publication page



Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Annals Of Neurology
O Lorenzo-Betancor, ZK Wszolek, OA Ross
Publication Date: 2016-02

Variant appearance in text: rs202197434
PubMed Link: 26677074
PubMed Central Link
Variant Present in the following documents:
  • NIHMS746220-supplement-Supp_Table_S1.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: N279K; rs202197434
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • pone.0121812.s001.doc
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: 837C>A; Asn279Lys
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
MC Fargnoli, F Sera, M Suppa, D Piccolo, MT Landi, A Chiarugi, C Pellegrini, S Seidenari, K Peris
Publication Date: 2014-12

Variant appearance in text: N/A
PubMed Link: 24588892
PubMed Central Link
Variant Present in the following documents:
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: N/A
PubMed Link: 24335900
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Molecular Biology And Evolution
C Martínez-Cadenas, S López, G Ribas, C Flores, O García, A Sevilla, I Smith-Zubiaga, M Ibarrola-Villaba, Mdel M Pino-Yanes, J Gardeazabal, D Boyano, A García de Galdeano, N Izagirre, C de la Rúa, S Alonso
Publication Date: 2013-12

Variant appearance in text: N/A
PubMed Link: 24045876
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research
X Guan, J Niu, Z Liu, LE Wang, CI Amos, JE Lee, JE Gershenwald, EA Grimm, Q Wei
Publication Date: 2013-05

Variant appearance in text: MC1R: 837C>A; Asn279Lys
PubMed Link: 23360207
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics
SA Savage, MR Gerstenblith, AM Goldstein, L Mirabello, MC Fargnoli, K Peris, MT Landi
Publication Date: 2008-04-10

Variant appearance in text: MC1R: 837C>A; N279K
PubMed Link: 18402696
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

The Journal Of Investigative Dermatology
C Kennedy, J ter Huurne, M Berkhout, N Gruis, M Bastiaens, W Bergman, R Willemze, JN Bavinck
Publication Date: 2001-08

Variant appearance in text: N/A
PubMed Link: 11511307
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

American Journal Of Human Genetics
MT Bastiaens, JA ter Huurne, C Kielich, NA Gruis, RG Westendorp, BJ Vermeer, JN Bavinck,
Publication Date: 2001-04

Variant appearance in text: N/A
PubMed Link: 11254446
PubMed Central Link
Variant Present in the following documents:
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1183C>A - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.717G>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.837C>A p.Asn279Lys missense_variant 1/1 -
ENST00000555427.1 c.837C>A p.Asn279Lys missense_variant 3/4 -
ENST00000556922.1 c.837C>A p.Asn279Lys missense_variant 1/5 -
NM_002386.3 c.837C>A p.Asn279Lys missense_variant 1/1 -