MC1R c.392G>A ;(p.S131N)

Variant ID: 16-89986058-G-A

NM_002386.3(MC1R):c.392G>A;(p.S131N)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: MC1R: 392G>A; S131N; rs370094672
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.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: rs370094672
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: rs370094672
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.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: rs370094672
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: S131N; rs370094672
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: 392G>A; Ser131Asn
PubMed Link: 23360207
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: S131N
PubMed Link: 22095472
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multifocal aggressive squamous cell carcinomas induced by prolonged voriconazole therapy: a case report.

Case Reports In Medicine
Morice, C C; Acher, A A; Soufir, N N; Michel, M M; Comoz, F F; Leroy, D D; Verneuil, L L
Publication Date: 2010

Variant appearance in text: MC1R: Ser131Asn
PubMed Link: 21209800
Variant Present in the following documents:
  • Main text
  • CRIM2010-351084.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: S131N
PubMed Link: 19493000
Variant Present in the following documents:
  • Main text
View BVdb publication page