Variant ID: 16-89985722-C-T

NM_002386.3(MC1R):c.56C>T;(p.Thr19Ile)

This variant was identified in 6 publications




Publications:


Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer
M Casula, P Paliogiannis, F Ayala, V De Giorgi, I Stanganelli, M Mandalà, M Colombino, A Manca, MC Sini, C Caracò, PA Ascierto, RR Satta, , A Lissia, A Cossu, G Palmieri,
Publication Date: 2019-08-05

Variant appearance in text: MC1R: 56C>T; Thr19Ile
PubMed Link: 31382929
PubMed Central Link
Variant Present in the following documents:
  • 12885_2019_5984_MOESM1_ESM.pdf
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: T19I; rs372041071
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: 56C>T; Thr19Ile
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research
X Guan, J Niu, Z Liu, LE Wang, CI Amos, JE Lee, JE Gershenwald, EA Grimm, Q Wei
Publication Date: 2013-05

Variant appearance in text: MC1R: 56C>T; Thr19Ile
PubMed Link: 23360207
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

International Journal Of Cancer
AE Cust, C Goumas, EA Holland, C Agha-Hamilton, JF Aitken, BK Armstrong, GG Giles, RF Kefford, H Schmid, JL Hopper, GJ Mann, MA Jenkins
Publication Date: 2012-08-01

Variant appearance in text: MC1R: T19I
PubMed Link: 22095472
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.

Journal Of The National Cancer Institute
MT Landi, PA Kanetsky, S Tsang, B Gold, D Munroe, T Rebbeck, J Swoyer, M Ter-Minassian, M Hedayati, L Grossman, AM Goldstein, D Calista, RM Pfeiffer
Publication Date: 2005-07-06

Variant appearance in text: MC1R: T19I
PubMed Link: 15998953
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.402C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.56C>T p.Thr19Ile missense_variant 1/1 -
ENST00000555427.1 c.56C>T p.Thr19Ile missense_variant 3/4 -
ENST00000556922.1 c.56C>T p.Thr19Ile missense_variant 1/5 -
NM_002386.3 c.56C>T p.Thr19Ile missense_variant 1/1 -