Variant ID: 16-89986084-G-A

NM_002386.3(MC1R):c.418G>A;(p.Val140Met)

This variant was identified in 4 publications




Publications:


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: V140M; rs376709880
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • pone.0121812.s001.doc
View BVdb publication page



A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International
HH Hu, M Benfodda, N Dumaz, S Gazal, V Descamps, A Bourillon, N Basset-Seguin, A Riffault, K Ezzedine, M Bagot, A Bensussan, P Saiag, B Grandchamp, N Soufir
Publication Date: 2014

Variant appearance in text: MC1R: V140M
PubMed Link: 24982914
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • 925716.f1.pdf
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: 418G>A; Val140Met
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

Journal Of Human Genetics
K Yamaguchi, C Watanabe, A Kawaguchi, T Sato, I Naka, M Shindo, K Moromizato, K Aoki, H Ishida, R Kimura
Publication Date: 2012-11-26

Variant appearance in text: MC1R: V140M
PubMed Link: 22854540
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.764G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.418G>A p.Val140Met missense_variant 1/1 -
ENST00000555427.1 c.418G>A p.Val140Met missense_variant 3/4 -
ENST00000556922.1 c.418G>A p.Val140Met missense_variant 1/5 -
NM_002386.3 c.418G>A p.Val140Met missense_variant 1/1 -