MC1R c.242C>T ;(p.A81V)

Variant ID: 16-89985908-C-T

NM_002386.3(MC1R):c.242C>T;(p.A81V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: MC1R: 242C>T; A81V
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: A81V
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences.

Bmc Genetics
Fontanesi, Luca L; Beretti, Francesca F; Riggio, Valentina V; Dall'Olio, Stefania S; González, Elena Gómez EG; Finocchiaro, Raffaella R; Davoli, Roberta R; Russo, Vincenzo V; Portolano, Baldassare B
Publication Date: 2009-08-25

Variant appearance in text: MC1R: 242C>T
PubMed Link: 19706191
Variant Present in the following documents:
  • Main text
  • 1471-2156-10-47.pdf
  • 1471-2156-10-47-S2.pdf
View BVdb publication page