MC1R c.944G>C ;(p.C315S)

Variant ID: 16-89986610-G-C

NM_002386.3(MC1R):c.944G>C;(p.C315S)

This variant was identified in 7 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: rs377248188
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: rs377248188
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



cAMP-mediated regulation of melanocyte genomic instability: A melanoma-preventive strategy.

Advances In Protein Chemistry And Structural Biology
Holcomb, Nathaniel C NC; Bautista, Robert-Marlo RM; Jarrett, Stuart G SG; Carter, Katharine M KM; Gober, Madeline Krentz MK; D'Orazio, John A JA
Publication Date: 2019

Variant appearance in text: MC1R: C315S
PubMed Link: 30798934
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting MC1R depalmitoylation to prevent melanomagenesis in redheads.

Nature Communications
Chen, Shuyang S; Han, Changpeng C; Miao, Xiao X; Li, Xin X; Yin, Chengqian C; Zou, Junrong J; Liu, Min M; Li, Shanshan S; Stawski, Lukasz L; Zhu, Bo B; Shi, Qiong Q; Xu, Zhi-Xiang ZX; Li, Chunying C; Goding, Colin R CR; Zhou, Jun J; Cui, Rutao R
Publication Date: 2019-02-20

Variant appearance in text: MC1R: C315S
PubMed Link: 30787281
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_8691.pdf
  • 41467_2019_8691_MOESM1_ESM.pdf
View BVdb publication page



Palmitoylation-dependent activation of MC1R prevents melanomagenesis.

Nature
Chen, Shuyang S; Zhu, Bo B; Yin, Chengqian C; Liu, Wei W; Han, Changpeng C; Chen, Baoen B; Liu, Tongzheng T; Li, Xin X; Chen, Xiang X; Li, Chunying C; Hu, Limin L; Zhou, Jun J; Xu, Zhi-Xiang ZX; Gao, Xiumei X; Wu, Xu X; Goding, Colin R CR; Cui, Rutao R
Publication Date: 2017-09-21

Variant appearance in text: MC1R: C315S
PubMed Link: 28869973
Variant Present in the following documents:
  • Main text
  • nihms899525.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MC1R: 944G>C; C315S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: C315S; rs377248188
PubMed Link: 25794181
Variant Present in the following documents:
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: C315S
PubMed Link: 19493000
Variant Present in the following documents:
  • Main text
View BVdb publication page