Variant ID: 16-89986186-G-A

NM_002386.3(MC1R):c.520G>A;(p.Val174Ile)

This variant was identified in 7 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: rs762183931
PubMed Link: 26677074
PubMed Central Link
Variant Present in the following documents:
  • NIHMS746220-supplement-Supp_Table_S1.docx
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: 520G>A; Val174Ile
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



MC1R is a potent regulator of PTEN after UV exposure in melanocytes.

Molecular Cell
J Cao, L Wan, E Hacker, X Dai, S Lenna, C Jimenez-Cervantes, Y Wang, NR Leslie, GX Xu, HR Widlund, B Ryu, RM Alani, K Dutton-Regester, CR Goding, NK Hayward, W Wei, R Cui
Publication Date: 2013-08-22

Variant appearance in text: MC1R: V174I
PubMed Link: 23973372
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



ASSESSMENT OF MC1R AND α-MSH GENE SEQUENCES IN IRANIAN VITILIGO PATIENTS.

Indian Journal Of Dermatology
M Eskandani, S Hasannia, S Vandghanooni, N Pirooznia, J Golchai
Publication Date: 2010-10

Variant appearance in text: MC1R: Val174Ile
PubMed Link: 21430882
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: 520G>A; V174I
PubMed Link: 18402696
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

The Journal Of Investigative Dermatology
C Kennedy, J ter Huurne, M Berkhout, N Gruis, M Bastiaens, W Bergman, R Willemze, JN Bavinck
Publication Date: 2001-08

Variant appearance in text: MC1R: Val174Ile
PubMed Link: 11511307
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

American Journal Of Human Genetics
MT Bastiaens, JA ter Huurne, C Kielich, NA Gruis, RG Westendorp, BJ Vermeer, JN Bavinck,
Publication Date: 2001-04

Variant appearance in text: MC1R: Val174Ile
PubMed Link: 11254446
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.866G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.520G>A p.Val174Ile missense_variant 1/1 -
ENST00000555427.1 c.520G>A p.Val174Ile missense_variant 3/4 -
ENST00000556922.1 c.520G>A p.Val174Ile missense_variant 1/5 -
NM_002386.3 c.520G>A p.Val174Ile missense_variant 1/1 -