NCAN c.540G>C ;(p.E180D)

Variant ID: 19-19334894-G-C

NM_004386.2(NCAN):c.540G>C;(p.E180D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: NCAN: 540G>C; E180D
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.

Scientific Reports
Di Costanzo, Alessia A; Belardinilli, Francesca F; Bailetti, Diego D; Sponziello, Marialuisa M; D'Erasmo, Laura L; Polimeni, Licia L; Baratta, Francesco F; Pastori, Daniele D; Ceci, Fabrizio F; Montali, Anna A; Girelli, Gabriella G; De Masi, Bruna B; Angeloni, Antonio A; Giannini, Giuseppe G; Del Ben, Maria M; Angelico, Francesco F; Arca, Marcello M
Publication Date: 2018-02-27

Variant appearance in text: NCAN: Glu180Asp
PubMed Link: 29487372
Variant Present in the following documents:
  • 41598_2018_21939_MOESM1_ESM.pdf
View BVdb publication page