MC1R c.717C>T ;(p.G239=)

Variant ID: 16-89986383-C-T

NM_002386.3(MC1R):c.717C>T;(p.G239=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MC1R: G239G
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
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: rs34490506
PubMed Link: 30657907
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
Cust, Anne E AE; Goumas, Chris C; Holland, Elizabeth A EA; Agha-Hamilton, Chantelle C; Aitken, Joanne F JF; Armstrong, Bruce K BK; Giles, Graham G GG; Kefford, Richard F RF; Schmid, Helen H; Hopper, John L JL; Mann, Graham J GJ; Jenkins, Mark A MA
Publication Date: 2012-08-01

Variant appearance in text: MC1R: G239G
PubMed Link: 22095472
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Bmc Medical Genetics
Peric, Barbara B; Cerkovnik, Petra P; Novakovic, Srdjan S; Zgajnar, Janez J; Besic, Nikola N; Hocevar, Marko M
Publication Date: 2008-09-19

Variant appearance in text: MC1R: 717C>T; G239G
PubMed Link: 18803811
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-86.pdf
View BVdb publication page