Variant ID: 16-89985958-A-G

NM_002386.3(MC1R):c.292A>G;(p.Ile98Val)

This variant was identified in 3 publications




Publications:


The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Neurobiology Of Aging
Z Gan-Or, N Mohsin, SL Girard, JY Montplaisir, A Ambalavanan, S Strong, V Mallett, SB Laurent, CV Bourassa, M Boivin, M Langlois, I Arnulf, B Högl, B Frauscher, C Monaca, A Desautels, JF Gagnon, RB Postuma, PA Dion, Y Dauvilliers, N Dupre, RN Alcalay, GA Rouleau
Publication Date: 2016-07

Variant appearance in text: MC1R: 292A>G; I98V; rs373341896
PubMed Link: 27131830
PubMed Central Link
Variant Present in the following documents:
  • NIHMS776338-supplement-1.docx
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: I98V
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 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: 292A>G; Ile98Val
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.638A>G - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.292A>G p.Ile98Val missense_variant 1/1 -
ENST00000555427.1 c.292A>G p.Ile98Val missense_variant 3/4 -
ENST00000556922.1 c.292A>G p.Ile98Val missense_variant 1/5 -
NM_002386.3 c.292A>G p.Ile98Val missense_variant 1/1 -