Variant ID: 16-89986333-C-T

NM_002386.3(MC1R):c.667C>T;(p.Arg223Trp)

This variant was identified in 7 publications




Publications:


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: R223W; rs372152373
PubMed Link: 29340229
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: Arg223Trp
PubMed Link: 27403562
PubMed Central Link
Variant Present in the following documents:
  • ncomms12064-s1.pdf
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: N/A
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
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: 667C>T; R223W
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: 667C>T; Arg223Trp
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: 667C>T; Arg223Trp
PubMed Link: 23360207
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study.

The Journal Of Investigative Dermatology
NE Thomas, PA Kanetsky, SN Edmiston, A Alexander, CB Begg, PA Groben, H Hao, K Busam, DW Ollila, M Berwick, K Conway
Publication Date: 2010-05

Variant appearance in text: MC1R: R223W
PubMed Link: 20043015
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.1013C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.887G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.667C>T p.Arg223Trp missense_variant 1/1 -
ENST00000555427.1 c.667C>T p.Arg223Trp missense_variant 3/4 -
ENST00000556922.1 c.667C>T p.Arg223Trp missense_variant 1/5 -
NM_002386.3 c.667C>T p.Arg223Trp missense_variant 1/1 -