Variant ID: 16-89986055-C-T

NM_002386.3(MC1R):c.389C>T;(p.Ser130Phe)

This variant was identified in 3 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: S130F; rs377025135
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: 389C>T; S130F
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: 389C>T; Ser130Phe
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.735C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.389C>T p.Ser130Phe missense_variant 1/1 -
ENST00000555427.1 c.389C>T p.Ser130Phe missense_variant 3/4 -
ENST00000556922.1 c.389C>T p.Ser130Phe missense_variant 1/5 -
NM_002386.3 c.389C>T p.Ser130Phe missense_variant 1/1 -