MC1R c.330T>C ;(p.A110=)

Variant ID: 16-89985996-T-C

NM_002386.3(MC1R):c.330T>C;(p.A110=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: Ala110Ala; rs377050541
PubMed Link: 35452484
Variant Present in the following documents:
  • pone.0267286.s002.xlsx, sheet 1
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: MC1R: 330T>C; A110A; rs377050541
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
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: rs377050541
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page