TRAPPC8 c.3202A>G ;(p.R1068G)

Variant ID: 18-29435757-T-C

NM_014939.3(TRAPPC8):c.3202A>G;(p.R1068G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: TRAPPC8: 3202A>G
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
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: 3202A>G
PubMed Link: 24358150
Variant Present in the following documents:
  • pone.0082154.s002.xls, sheet 1
View BVdb publication page