TRAPPC8 c.188A>G ;(p.H63R)

Variant ID: 18-29511456-T-C

NM_014939.3(TRAPPC8):c.188A>G;(p.H63R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: TRAPPC8: 188A>G
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 7
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 8
  • Supplementary_Data2.xlsx, sheet 6
View BVdb publication page



A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Plos One
Pippucci, Tommaso T; Parmeggiani, Antonia A; Palombo, Flavia F; Maresca, Alessandra A; Angius, Andrea A; Crisponi, Laura L; Cucca, Francesco F; Liguori, Rocco R; Valentino, Maria Lucia ML; Seri, Marco M; Carelli, Valerio V
Publication Date: 2013

Variant appearance in text: TRAPPC8: 188A>G; H63R
PubMed Link: 24358150
Variant Present in the following documents:
  • pone.0082154.s002.xls, sheet 1
View BVdb publication page