MC1R c.485G>C ;(p.R162P)

Variant ID: 16-89986151-G-C

NM_002386.3(MC1R):c.485G>C;(p.R162P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The protective role of MC1R in chromosome stability and centromeric integrity in melanocytes.

Cell Death Discovery
Li, Xin X; Mao, Weiwei W; Chen, Jie J; Goding, Colin R CR; Cui, Rutao R; Xu, Zhi-Xiang ZX; Miao, Xiao X
Publication Date: 2021-05-18

Variant appearance in text: MC1R: R162P
PubMed Link: 34001865
Variant Present in the following documents:
  • Main text
  • 41420_2021_Article_499.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MC1R: R162P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

Pigment Cell & Melanoma Research
Shahzad, Mohsin M; Sires Campos, Julia J; Tariq, Nabeela N; Herraiz Serrano, Cecilia C; Yousaf, Rizwan R; Jiménez-Cervantes, Celia C; Yousaf, Sairah S; Waryah, Yar M YM; Dad, Haseeb A HA; Blue, Elizabeth M EM; Sobreira, Nara N; López-Giráldez, Francesc F; , ; Kausar, Tasleem T; Ali, Muhammad M; Waryah, Ali M AM; Riazuddin, Saima S; Shaikh, Rehan S RS; García-Borrón, José C JC; Ahmed, Zubair M ZM
Publication Date: 2015-11

Variant appearance in text: MC1R: Arg162Pro
PubMed Link: 26197705
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

Pigment Cell & Melanoma Research
García-Borrón, Jose C JC; Abdel-Malek, Zalfa Z; Jiménez-Cervantes, Celia C
Publication Date: 2014-09

Variant appearance in text: MC1R: R162P
PubMed Link: 24807163
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Molecular Cell
Cao, Juxiang J; Wan, Lixin L; Hacker, Elke E; Dai, Xiangpeng X; Lenna, Stefania S; Jimenez-Cervantes, Celia C; Wang, Yongjun Y; Leslie, Nick R NR; Xu, George X GX; Widlund, Hans R HR; Ryu, Byungwoo B; Alani, Rhoda M RM; Dutton-Regester, Ken K; Goding, Colin R CR; Hayward, Nicholas K NK; Wei, Wenyi W; Cui, Rutao R
Publication Date: 2013-08-22

Variant appearance in text: MC1R: R162P
PubMed Link: 23973372
Variant Present in the following documents:
  • Main text
View BVdb publication page



Selected melanocortin 1 receptor single-nucleotide polymorphisms differentially alter multiple signaling pathways.

The Journal Of Pharmacology And Experimental Therapeutics
Doyle, J R JR; Fortin, J P JP; Beinborn, M M; Kopin, A S AS
Publication Date: 2012-08

Variant appearance in text: MC1R: R162P
PubMed Link: 22547573
Variant Present in the following documents:
  • Main text
View BVdb publication page