SLCO3A1 c.444C>G ;(p.D148E)

Variant ID: 15-92459486-C-G

NM_013272.3(SLCO3A1):c.444C>G;(p.D148E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Npj Genomic Medicine
Friedman, Daniel D; Kannan, Kasthuri K; Faustin, Arline A; Shroff, Seema S; Thomas, Cheddhi C; Heguy, Adriana A; Serrano, Jonathan J; Snuderl, Matija M; Devinsky, Orrin O
Publication Date: 2018

Variant appearance in text: SLCO3A1: D148E
PubMed Link: 29619247
Variant Present in the following documents:
  • 41525_2018_48_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: SLCO3A1: D148E
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page