Variant ID: 16-89985914-C-T

NM_002386.3(MC1R):c.248C>T;(p.Ser83Leu)

This variant was identified in 9 publications




Publications:


Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.

Genes
J Tanaka, T Leeb, J Rushton, TR Famula, M Mack, V Jagannathan, C Flury, I Bachmann, J Eberth, SM McDonnell, MCT Penedo, RR Bellone
Publication Date: 2019-10-19

Variant appearance in text: MC1R: 248C>T; S83F
PubMed Link: 31635058
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • genes-10-00826.pdf
View BVdb publication page



The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Oncology Letters
A Ozola, D Ruklisa, D Pjanova
Publication Date: 2019-11

Variant appearance in text: MC1R: 248C>T; Ser83Leu; rs777024553
PubMed Link: 31612033
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplementary_Data.pdf
  • ol-18-05-5225.pdf
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: Ser83Leu
PubMed Link: 27403562
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: 248C>T; Ser83Leu
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
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: 248C>T; S83L
PubMed Link: 23647022
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

Cancer Genetics
A Ozola, K Azarjana, S Doniņa, G Proboka, I Mandrika, R Petrovska, I Cēma, O Heisele, L Eņģele, B Streinerte, D Pjanova
Publication Date: 2013-03

Variant appearance in text: MC1R: 248C>T; Ser83Leu
PubMed Link: 23522749
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Journal Of The National Cancer Institute
F Demenais, H Mohamdi, V Chaudru, AM Goldstein, JA Newton Bishop, DT Bishop, PA Kanetsky, NK Hayward, E Gillanders, DE Elder, MF Avril, E Azizi, P van Belle, W Bergman, G Bianchi-Scarrà, B Bressac-de Paillerets, D Calista, C Carrera, J Hansson, M Harland, D Hogg, V Höiom, EA Holland, C Ingvar, MT Landi, JM Lang, RM Mackie, GJ Mann, ME Ming, CJ Njauw, H Olsson, J Palmer, L Pastorino, S Puig, J Randerson-Moor, M Stark, H Tsao, MA Tucker, P van der Velden, XR Yang, N Gruis,
Publication Date: 2010-10-20

Variant appearance in text: MC1R: S83L
PubMed Link: 20876876
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: 248C>T; S83L
PubMed Link: 19585506
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
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: 248C>T; S83L
PubMed Link: 18402696
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.594C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.248C>T p.Ser83Leu missense_variant 1/1 -
ENST00000555427.1 c.248C>T p.Ser83Leu missense_variant 3/4 -
ENST00000556922.1 c.248C>T p.Ser83Leu missense_variant 1/5 -
NM_002386.3 c.248C>T p.Ser83Leu missense_variant 1/1 -