Variant ID: 16-89986178-C-G

NM_002386.3(MC1R):c.512C>G;(p.Ala171Gly)

This variant was identified in 5 publications




Publications:


Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease.

Annals Of Neurology
O Lorenzo-Betancor, ZK Wszolek, OA Ross
Publication Date: 2016-02

Variant appearance in text: rs373224783
PubMed Link: 26677074
PubMed Central Link
Variant Present in the following documents:
  • NIHMS746220-supplement-Supp_Table_S1.docx
View BVdb publication page



Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

Pigment Cell & Melanoma Research
M Shahzad, J Sires Campos, N Tariq, C Herraiz Serrano, R Yousaf, C Jiménez-Cervantes, S Yousaf, YM Waryah, HA Dad, EM Blue, N Sobreira, F López-Giráldez, , T Kausar, M Ali, AM Waryah, S Riazuddin, RS Shaikh, JC García-Borrón, ZM Ahmed
Publication Date: 2015-11

Variant appearance in text: MC1R: 512C>G; Ala171Gly
PubMed Link: 26197705
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: A171G; rs373224783
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • pone.0121812.s001.doc
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: 512C>G; Ala171Gly
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
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: A171G
PubMed Link: 20876876
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.858C>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.512C>G p.Ala171Gly missense_variant 1/1 -
ENST00000555427.1 c.512C>G p.Ala171Gly missense_variant 3/4 -
ENST00000556922.1 c.512C>G p.Ala171Gly missense_variant 1/5 -
NM_002386.3 c.512C>G p.Ala171Gly missense_variant 1/1 -