MC1R c.900C>T ;(p.F300=)

Variant ID: 16-89986566-C-T

NM_002386.3(MC1R):c.900C>T;(p.F300=)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics.

Cancer Research Communications
Lacson, John Charles A JCA; Doyle, Scarlet H SH; Del Rio, Jocelyn J; Forgas, Stephanie M SM; Carvajal, Rodrigo R; Gonzalez-Calderon, Guillermo G; Feliciano, Adriana Ramírez AR; Kim, Youngchul Y; Roetzheim, Richard G RG; Sutton, Steven K SK; Vadaparampil, Susan T ST; Soto-Torres, Brenda B; Kanetsky, Peter A PA
Publication Date: 2022-01

Variant appearance in text: MC1R: F300F; rs3212367
PubMed Link: 35845857
Variant Present in the following documents:
  • crc-21-0114-s01.xlsx, sheet 1
View BVdb publication page



Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Plos One
Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R
Publication Date: 2022

Variant appearance in text: MC1R: Phe300Phe; rs3212367
PubMed Link: 35452484
Variant Present in the following documents:
  • Main text
  • pone.0267286.pdf
  • pone.0267286.s002.xlsx, sheet 1
View BVdb publication page



MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports
Smit, Amelia K AK; Collazo-Roman, Marielys M; Vadaparampil, Susan T ST; Valavanis, Stella S; Del Rio, Jocelyn J; Soto, Brenda B; Flores, Idhaliz I; Dutil, Julie J; Kanetsky, Peter A PA
Publication Date: 2020-04-29

Variant appearance in text: MC1R: F300F; rs3212367
PubMed Link: 32350296
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_64019.pdf
View BVdb publication page



Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
Orlow, I I; Satagopan, J M JM; Berwick, M M; Enriquez, H L HL; White, K A M KA; Cheung, K K; Dusza, S W SW; Oliveria, S A SA; Marchetti, M A MA; Scope, A A; Marghoob, A A AA; Halpern, A C AC
Publication Date: 2015-04

Variant appearance in text: rs3212367
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International
Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N
Publication Date: 2014

Variant appearance in text: MC1R: 900C>T; F300F; rs3212367
PubMed Link: 24982914
Variant Present in the following documents:
  • Main text
  • BMRI2014-925716.pdf
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: 900C>T; Phe300Phe; rs3212367
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: F300F
PubMed Link: 22095472
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics
Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT
Publication Date: 2008-04-10

Variant appearance in text: MC1R: 900C>T; F300F
PubMed Link: 18402696
Variant Present in the following documents:
  • Main text
  • 1471-2156-9-31.pdf
View BVdb publication page



A genomewide association study of skin pigmentation in a South Asian population.

American Journal Of Human Genetics
Stokowski, Renee P RP; Pant, P V Krishna PV; Dadd, Tony T; Fereday, Amelia A; Hinds, David A DA; Jarman, Carl C; Filsell, Wendy W; Ginger, Rebecca S RS; Green, Martin R MR; van der Ouderaa, Frans J FJ; Cox, David R DR
Publication Date: 2007-12

Variant appearance in text: rs3212367
PubMed Link: 17999355
Variant Present in the following documents:
  • Main text
View BVdb publication page