Variant ID: 16-89986583-G-A

NM_002386.3(MC1R):c.917G>A;(p.Arg306His)

This variant was identified in 8 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: rs368507952
PubMed Link: 30657907
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

Nature Communications
MD Morgan, E Pairo-Castineira, K Rawlik, O Canela-Xandri, J Rees, D Sims, A Tenesa, IJ Jackson
Publication Date: 2018-12-10

Variant appearance in text: MC1R: R306H; rs368507952
PubMed Link: 30531825
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline MC1R status influences somatic mutation burden in melanoma.

Nature Communications
CD Robles-Espinoza, ND Roberts, S Chen, FP Leacy, LB Alexandrov, N Pornputtapong, R Halaban, M Krauthammer, R Cui, D Timothy Bishop, DJ Adams
Publication Date: 2016-07-12

Variant appearance in text: MC1R: Arg306His
PubMed Link: 27403562
PubMed Central Link
Variant Present in the following documents:
  • ncomms12064-s1.pdf
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: R306H; rs368507952
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 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: 917G>A; R306H
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: 917G>A; Arg306His
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
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: 917G>A; Arg306His
PubMed Link: 23360207
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

International Journal Of Cancer
AE Cust, C Goumas, EA Holland, C Agha-Hamilton, JF Aitken, BK Armstrong, GG Giles, RF Kefford, H Schmid, JL Hopper, GJ Mann, MA Jenkins
Publication Date: 2012-08-01

Variant appearance in text: MC1R: R306H
PubMed Link: 22095472
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.1263G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.637C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.917G>A p.Arg306His missense_variant 1/1 -
ENST00000555427.1 c.917G>A p.Arg306His missense_variant 3/4 -
ENST00000556922.1 c.917G>A p.Arg306His missense_variant 1/5 -
NM_002386.3 c.917G>A p.Arg306His missense_variant 1/1 -