Variant ID: 16-89985856-G-A

NM_002386.3(MC1R):c.190G>A;(p.Ala64Thr)

This variant was identified in 8 publications




Publications:


Examining the molecular basis of coat color in a nocturnal primate family (Lorisidae).

Ecology And Evolution
RA Munds, CL Titus, LAA Moreira, LS Eggert, GE Blomquist
Publication Date: 2021-05

Variant appearance in text: MC1R: Ala64Thr
PubMed Link: 33976821
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports
AK Smit, M Collazo-Roman, ST Vadaparampil, S Valavanis, J Del Rio, B Soto, I Flores, J Dutil, PA Kanetsky
Publication Date: 2020-04-29

Variant appearance in text: MC1R: A64T; rs368501338
PubMed Link: 32350296
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
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: A64T; rs368501338
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: 190G>A; Ala64Thr
PubMed Link: 24807163
PubMed Central Link
Variant Present in the following documents:
  • NIHMS594139-supplement-Supp_Table_S1.doc
View BVdb publication page



Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology
JA Puig-Butillé, C Carrera, R Kumar, Z Garcia-Casado, C Badenas, P Aguilera, J Malvehy, E Nagore, S Puig
Publication Date: 2013-10

Variant appearance in text: MC1R: 190G>A; A64T
PubMed Link: 23647022
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: A64T
PubMed Link: 22095472
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study.

The Journal Of Investigative Dermatology
NE Thomas, PA Kanetsky, SN Edmiston, A Alexander, CB Begg, PA Groben, H Hao, K Busam, DW Ollila, M Berwick, K Conway
Publication Date: 2010-05

Variant appearance in text: MC1R: A64T
PubMed Link: 20043015
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.

International Journal Of Cancer
D Scherer, E Nagore, JL Bermejo, A Figl, R Botella-Estrada, RK Thirumaran, S Angelini, K Hemminki, D Schadendorf, R Kumar
Publication Date: 2009-10-15

Variant appearance in text: MC1R: 190G>A; A64T
PubMed Link: 19585506
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.536G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.190G>A p.Ala64Thr missense_variant 1/1 -
ENST00000555427.1 c.190G>A p.Ala64Thr missense_variant 3/4 -
ENST00000556922.1 c.190G>A p.Ala64Thr missense_variant 1/5 -
NM_002386.3 c.190G>A p.Ala64Thr missense_variant 1/1 -