Variant ID: 16-89986186-CGTC-C

NM_002386.3(MC1R):c.520_522del;(p.Val174del)

This variant was identified in 4 publications




Publications:


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: V174del
PubMed Link: 26197705
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • NIHMS710199-supplement-Supp_MaterialS1.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: Val173del
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
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: Val173del
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: Val173del
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.869_871del - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.523_525del p.Phe175del inframe_deletion 1/1 -
ENST00000555427.1 c.523_525del p.Phe175del inframe_deletion 3/4 -
ENST00000556922.1 c.523_525del p.Phe175del inframe_deletion 1/5 -
NM_002386.3 c.523_525del p.Phe175del inframe_deletion 1/1 -