Variant ID: 16-89986355-C-T

NM_002386.3(MC1R):c.689C>T;(p.Pro230Leu)

This variant was identified in 10 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: P230L; rs368714912
PubMed Link: 25794181
PubMed Central Link
Variant Present in the following documents:
  • 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: 689C>T; Pro230Leu
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



MC1R is a potent regulator of PTEN after UV exposure in melanocytes.

Molecular Cell
J Cao, L Wan, E Hacker, X Dai, S Lenna, C Jimenez-Cervantes, Y Wang, NR Leslie, GX Xu, HR Widlund, B Ryu, RM Alani, K Dutton-Regester, CR Goding, NK Hayward, W Wei, R Cui
Publication Date: 2013-08-22

Variant appearance in text: MC1R: P230L
PubMed Link: 23973372
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: 689C>T; Pro230Leu
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: P230L
PubMed Link: 22095472
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics
SA Savage, MR Gerstenblith, AM Goldstein, L Mirabello, MC Fargnoli, K Peris, MT Landi
Publication Date: 2008-04-10

Variant appearance in text: MC1R: 689C>T; P230L
PubMed Link: 18402696
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: P230L
PubMed Link: 15998953
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of MC1R variants in uveal melanoma.

British Journal Of Cancer
N Hearle, J Humphreys, BE Damato, R Wort, R Talaban, J Wixey, H Green, DF Easton, RS Houlston
Publication Date: 2003-11-17

Variant appearance in text: MC1R: P230L
PubMed Link: 14612910
PubMed Central Link
Variant Present in the following documents:
  • Main text
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: Pro230Leu
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: Pro230Leu
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.1035C>T - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.865G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.689C>T p.Pro230Leu missense_variant 1/1 -
ENST00000555427.1 c.689C>T p.Pro230Leu missense_variant 3/4 -
ENST00000556922.1 c.689C>T p.Pro230Leu missense_variant 1/5 -
NM_002386.3 c.689C>T p.Pro230Leu missense_variant 1/1 -