Variant ID: 16-89985788-C-T

NM_002386.3(MC1R):c.122C>T;(p.Ser41Phe)

This variant was identified in 5 publications




Publications:


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: S41F
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 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: S41F
PubMed Link: 24335900
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.

Molecular Biology And Evolution
C Martínez-Cadenas, S López, G Ribas, C Flores, O García, A Sevilla, I Smith-Zubiaga, M Ibarrola-Villaba, Mdel M Pino-Yanes, J Gardeazabal, D Boyano, A García de Galdeano, N Izagirre, C de la Rúa, S Alonso
Publication Date: 2013-12

Variant appearance in text: MC1R: S41F
PubMed Link: 24045876
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Melanocortin 1 receptor variants: functional role and pigmentary associations.

Photochemistry And Photobiology
C Dessinioti, C Antoniou, A Katsambas, AJ Stratigos
Publication Date: 2011

Variant appearance in text: MC1R: S41F
PubMed Link: 21749400
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.

Carcinogenesis
L Fernandez, R Milne, J Bravo, J Lopez, J Avilés, M Longo, J Benítez, P Lázaro, G Ribas
Publication Date: 2007-08

Variant appearance in text: MC1R: S41F
PubMed Link: 17434924
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.468C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.122C>T p.Ser41Phe missense_variant 1/1 -
ENST00000555427.1 c.122C>T p.Ser41Phe missense_variant 3/4 -
ENST00000556922.1 c.122C>T p.Ser41Phe missense_variant 1/5 -
NM_002386.3 c.122C>T p.Ser41Phe missense_variant 1/1 -