Variant ID: 16-89986090-C-T

NM_002386.3(MC1R):c.424C>T;(p.Arg142Cys)

This variant was identified in 10 publications




Publications:


MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports
AK Smit, M Collazo-Roman, ST Vadaparampil, S Valavanis, J Del Rio, B Soto, I Flores, J Dutil, PA Kanetsky
Publication Date: 2020-04-29

Variant appearance in text: MC1R: R142C; rs752927306
PubMed Link: 32350296
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
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: 424C>T; R142C
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: 424C>T; Arg142Cys
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
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: MC1R: R142C
PubMed Link: 24335900
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology
JA Puig-Butillé, C Carrera, R Kumar, Z Garcia-Casado, C Badenas, P Aguilera, J Malvehy, E Nagore, S Puig
Publication Date: 2013-10

Variant appearance in text: MC1R: 424C>T; R142C
PubMed Link: 23647022
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: 424C>T; Arg142Cys
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: R142C
PubMed Link: 22095472
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Bmc Cancer
M Casula, A Muggiano, A Cossu, M Budroni, C Caracò, PA Ascierto, E Pagani, I Stanganelli, S Canzanella, M Sini, G Palomba, , G Palmieri
Publication Date: 2009-10-03

Variant appearance in text: MC1R: Arg142Cys
PubMed Link: 19799798
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.

International Journal Of Cancer
D Scherer, E Nagore, JL Bermejo, A Figl, R Botella-Estrada, RK Thirumaran, S Angelini, K Hemminki, D Schadendorf, R Kumar
Publication Date: 2009-10-15

Variant appearance in text: MC1R: 424C>T; R142C
PubMed Link: 19585506
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Endocrinology
K Tan, ID Pogozheva, GS Yeo, D Hadaschik, JM Keogh, C Haskell-Leuvano, S O'Rahilly, HI Mosberg, IS Farooqi
Publication Date: 2009-01

Variant appearance in text: MC1R: R142C
PubMed Link: 18801902
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.770C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.424C>T p.Arg142Cys missense_variant 1/1 -
ENST00000555427.1 c.424C>T p.Arg142Cys missense_variant 3/4 -
ENST00000556922.1 c.424C>T p.Arg142Cys missense_variant 1/5 -
NM_002386.3 c.424C>T p.Arg142Cys missense_variant 1/1 -