MC1R c.515G>T ;(p.S172I)

Variant ID: 16-89986181-G-T

NM_002386.3(MC1R):c.515G>T;(p.S172I)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs376670171
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs376670171
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics
Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L
Publication Date: 2019-06-15

Variant appearance in text: rs376670171
PubMed Link: 30657907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.

Peerj
Li, Xiaohong X; Lee, Katie J KJ; Duffy, David L DL; Xu, Dandan D; Basude, Madhur Eshwar Rao MER; Hu, Ying Y; Zhang, Hang H; Jagirdar, Kasturee K; Soyer, H Peter HP; Dong, Huiting H; Sturm, Richard A RA
Publication Date: 2017

Variant appearance in text: MC1R: S172I
PubMed Link: 29340229
Variant Present in the following documents:
  • Main text
  • peerj-05-4168.pdf
  • peerj-05-4168-s002.xlsx, sheet 1
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs376670171
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Cutaneous melanoma primary site is linked to nevus density.

Oncotarget
Martin-Gorgojo, Alejandro A; Llinares, Marta M; Virós, Amaya A; Requena, Celia C; Garcia-Casado, Zaida Z; Traves, Víctor V; Kumar, Rajiv R; Nagore, Eduardo E
Publication Date: 2017-11-17

Variant appearance in text: MC1R: S172I
PubMed Link: 29228734
Variant Present in the following documents:
  • oncotarget-08-98876-s001.pdf
View BVdb publication page



Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Oncotarget
Lasorsa, Vito Alessandro VA; Formicola, Daniela D; Pignataro, Piero P; Cimmino, Flora F; Calabrese, Francesco Maria FM; Mora, Jaume J; Esposito, Maria Rosaria MR; Pantile, Marcella M; Zanon, Carlo C; De Mariano, Marilena M; Longo, Luca L; Hogarty, Michael D MD; de Torres, Carmen C; Tonini, Gian Paolo GP; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2016-04-19

Variant appearance in text: MC1R: 515G>T; S172I; rs376670171
PubMed Link: 27009842
Variant Present in the following documents:
  • oncotarget-07-21840-s008.xlsx, sheet 1
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: 515G>T; Ser172Ile; rs376670171
PubMed Link: 26197705
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.

Plos One
Hepp, Diego D; Gonçalves, Gislene Lopes GL; de Freitas, Thales Renato Ochotorena TR
Publication Date: 2015

Variant appearance in text: MC1R: S172I; rs376670171
PubMed Link: 25794181
Variant Present in the following documents:
  • Main text
  • pone.0121812.pdf
View BVdb publication page



Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Bmc Cancer
Casula, Milena M; Muggiano, Antonio A; Cossu, Antonio A; Budroni, Mario M; Caracò, Corrado C; Ascierto, Paolo A PA; Pagani, Elena E; Stanganelli, Ignazio I; Canzanella, Sergio S; Sini, Mariacristina M; Palomba, Grazia G; , ; Palmieri, Giuseppe G
Publication Date: 2009-10-03

Variant appearance in text: MC1R: Ser172Ile
PubMed Link: 19799798
Variant Present in the following documents:
  • Main text
  • 1471-2407-9-352.pdf
View BVdb publication page



Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.

Experimental Dermatology
Bauer, Jürgen J; Weng, Julie J; Kebebew, Electron E; Soares, Paula P; Trovisco, Vitor V; Bastian, Boris C BC
Publication Date: 2009-06

Variant appearance in text: MC1R: S172I
PubMed Link: 19493000
Variant Present in the following documents:
  • Main text
View BVdb publication page