Variant ID: 16-89985866-G-A

NM_002386.3(MC1R):c.200G>A;(p.Arg67Gln)

This variant was identified in 18 publications




Publications:


Systematic analysis of genetic variants in patients with essential tremor.

Brain And Behavior
L Yuan, X Deng, Z Song, S Deng, W Zheng, P Mao, H Deng
Publication Date: 2018-10

Variant appearance in text: rs34090186
PubMed Link: 30252209
PubMed Central Link
Variant Present in the following documents:
  • BRB3-8-e01100-s001.doc
  • Main text
View BVdb publication page



Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

Peerj
X Li, KJ Lee, DL Duffy, D Xu, MER Basude, Y Hu, H Zhang, K Jagirdar, HP Soyer, H Dong, RA Sturm
Publication Date: 2017

Variant appearance in text: MC1R: R67Q; rs34090186
PubMed Link: 29340229
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Scientific Reports
L Yuan, Z Song, X Deng, W Zheng, Y Guo, Z Yang, H Deng
Publication Date: 2016-09-22

Variant appearance in text: rs34090186
PubMed Link: 27653456
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: 200G>A; R67Q; rs34090186
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
  • NIHMS776338-supplement-1.docx
View BVdb publication page



Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics
C Shen, J Gao, Y Sheng, J Dou, F Zhou, X Zheng, R Ko, X Tang, C Zhu, X Yin, L Sun, Y Cui, X Zhang
Publication Date: 2016

Variant appearance in text: MC1R: Arg67Gln
PubMed Link: 26870082
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.

International Journal Of Audiology
SL Phillips, SJ Richter, SL Teglas, IS Bhatt, RC Morehouse, ER Hauser, VC Henrich
Publication Date: 2015

Variant appearance in text: rs34090186
PubMed Link: 25938503
PubMed Central Link
Variant Present in the following documents:
  • NIHMS761765-supplement-Supplementary_Table_S1.docx
  • NIHMS761765-supplement-Supplementary_Table_S3.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: R67Q; rs34090186
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • pone.0121812.s001.doc
View BVdb publication page



Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
I Orlow, JM Satagopan, M Berwick, HL Enriquez, KA White, K Cheung, SW Dusza, SA Oliveria, MA Marchetti, A Scope, AA Marghoob, AC Halpern
Publication Date: 2015-04

Variant appearance in text: MC1R: R67Q; rs34090186
PubMed Link: 25307738
PubMed Central Link
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
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: 200G>A; R67Q; rs34090186
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: 200G>A; Arg67Gln
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.

The Journal Of Dermatology
J Yoshizawa, Y Abe, N Oiso, K Fukai, Y Hozumi, T Nakamura, T Narita, T Motokawa, K Wakamatsu, S Ito, A Kawada, G Tamiya, T Suzuki
Publication Date: 2014-04

Variant appearance in text: MC1R: R67Q
PubMed Link: 24617981
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

Journal Of Human Genetics
K Yamaguchi, C Watanabe, A Kawaguchi, T Sato, I Naka, M Shindo, K Moromizato, K Aoki, H Ishida, R Kimura
Publication Date: 2012-11-26

Variant appearance in text: rs34090186
PubMed Link: 22854540
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.

Experimental Dermatology
J Bauer, J Weng, E Kebebew, P Soares, V Trovisco, BC Bastian
Publication Date: 2009-06

Variant appearance in text: MC1R: R67Q
PubMed Link: 19493000
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: 200G>A; R67Q
PubMed Link: 18402696
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Cancer Science
A Iida, S Saito, A Sekine, A Takahashi, N Kamatani, Y Nakamura
Publication Date: 2006-01

Variant appearance in text: MC1R: Arg67Gln
PubMed Link: 16367916
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Catalog of 300 SNPs in 23 genes encoding G-protein coupled receptors.

Journal Of Human Genetics
A Iida, S Saito, A Sekine, Y Kataoka, W Tabei, Y Nakamura
Publication Date: 2004

Variant appearance in text: MC1R: Arg67Gln
PubMed Link: 15042431
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Melanocortin-1 receptor gene variants in four Chinese ethnic populations.

Cell Research
S Peng, XM Lu, HR Luo, JG Xiang-Yu, YP Zhang
Publication Date: 2001-03

Variant appearance in text: MC1R: Arg67Gln
PubMed Link: 11305330
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Evidence for variable selective pressures at MC1R.

American Journal Of Human Genetics
RM Harding, E Healy, AJ Ray, NS Ellis, N Flanagan, C Todd, C Dixon, A Sajantila, IJ Jackson, MA Birch-Machin, JL Rees
Publication Date: 2000-04

Variant appearance in text: MC1R: Arg67Gln
PubMed Link: 10733465
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.546G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.200G>A p.Arg67Gln missense_variant 1/1 -
ENST00000555427.1 c.200G>A p.Arg67Gln missense_variant 3/4 -
ENST00000556922.1 c.200G>A p.Arg67Gln missense_variant 1/5 -
NM_002386.3 c.200G>A p.Arg67Gln missense_variant 1/1 -