MC1R c.881A>C ;(p.D294A)

Variant ID: 16-89986547-A-C

NM_002386.3(MC1R):c.881A>C;(p.D294A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: MC1R: D294A
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM1_ESM.pdf
View BVdb publication page



Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.

Human Heredity
Gerhard, Glenn S GS; Chu, Xin X; Wood, G Craig GC; Gerhard, Genevieve M GM; Benotti, Peter P; Petrick, Anthony T AT; Gabrielsen, Jon J; Strodel, William E WE; Still, Christopher D CD; Argyropoulos, George G
Publication Date: 2013

Variant appearance in text: MC1R: D294A
PubMed Link: 24081230
Variant Present in the following documents:
  • Main text
View BVdb publication page