CDKN2A c.387C>T ;(p.Y129=)

Variant ID: 9-21970971-G-A

NM_000077.4(CDKN2A):c.387C>T;(p.Y129=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The LOVD3 platform: efficient genome-wide sharing of genetic variants.

European Journal Of Human Genetics : Ejhg
Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT
Publication Date: 2021-12

Variant appearance in text: CDKN2A: 387C>T; Tyr129=
PubMed Link: 34521998
Variant Present in the following documents:
  • 41431_2021_959_MOESM4_ESM.pdf
View BVdb publication page



Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.

Melanoma Research
Pellegrini, Cristina C; Maturo, Maria Giovanna MG; Martorelli, Claudia C; Suppa, Mariano M; Antonini, Ambra A; Kostaki, Dimitra D; Verna, Lucilla L; Landi, Maria Teresa MT; Peris, Ketty K; Fargnoli, Maria Concetta MC
Publication Date: 2017-06

Variant appearance in text: ARF: 387C>T
PubMed Link: 28146043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequent p16-independent inactivation of p14ARF in human melanoma.

Journal Of The National Cancer Institute
Freedberg, Daniel E DE; Rigas, Sushila H SH; Russak, Julie J; Gai, Weiming W; Kaplow, Margarita M; Osman, Iman I; Turner, Faye F; Randerson-Moor, Juliette A JA; Houghton, Alan A; Busam, Klaus K; Timothy Bishop, D D; Bastian, Boris C BC; Newton-Bishop, Julia A JA; Polsky, David D
Publication Date: 2008-06-04

Variant appearance in text: ARF: 387C>T
PubMed Link: 18505964
Variant Present in the following documents:
  • Main text
View BVdb publication page