MC1R c.363C>G ;(p.D121E)

Variant ID: 16-89986029-C-G

NM_002386.3(MC1R):c.363C>G;(p.D121E)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: MC1R: D121E; rs200616835
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.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: rs200616835
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: rs200616835
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Oncology Letters
Ozola, Aija A; Ruklisa, Dace D; Pjanova, Dace D
Publication Date: 2019-11

Variant appearance in text: MC1R: 363C>G; Asp121Glu; rs200616835
PubMed Link: 31612033
Variant Present in the following documents:
  • Main text
  • Supplementary_Data.pdf
  • ol-18-05-5225.pdf
View BVdb publication page



Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.

Scientific Reports
Lindner, Angie A; Marbach, Felix F; Tschernitz, Sebastian S; Ortner, Christine C; Berneburg, Mark M; Felthaus, Oliver O; Prantl, Lukas L; Kye, Min Jeong MJ; Rappl, Gunter G; Altmüller, Janine J; Thiele, Holger H; Schreml, Stephan S; Schreml, Julia J
Publication Date: 2019-06-11

Variant appearance in text: MC1R: 363C>G; D121E
PubMed Link: 31186450
Variant Present in the following documents:
  • 41598_2019_44382_MOESM1_ESM.pdf
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: rs200616835
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Germline MC1R status influences somatic mutation burden in melanoma.

Nature Communications
Robles-Espinoza, Carla Daniela CD; Roberts, Nicola D ND; Chen, Shuyang S; Leacy, Finbarr P FP; Alexandrov, Ludmil B LB; Pornputtapong, Natapol N; Halaban, Ruth R; Krauthammer, Michael M; Cui, Rutao R; Timothy Bishop, D D; Adams, David J DJ
Publication Date: 2016-07-12

Variant appearance in text: MC1R: Asp121Glu
PubMed Link: 27403562
Variant Present in the following documents:
  • Main text
  • ncomms12064-s1.pdf
  • ncomms12064.pdf
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: D121E; rs200616835
PubMed Link: 25794181
Variant Present in the following documents:
View BVdb publication page



Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Pigment Cell & Melanoma Research
Guan, Xiaoxiang X; Niu, Jiangong J; Liu, Zhensheng Z; Wang, Li-E LE; Amos, Christopher I CI; Lee, Jeffrey E JE; Gershenwald, Jeffrey E JE; Grimm, Elizabeth A EA; Wei, Qingyi Q
Publication Date: 2013-05

Variant appearance in text: MC1R: 363C>G; Asp121Glu
PubMed Link: 23360207
Variant Present in the following documents:
  • Main text
View BVdb publication page