CYP2C8 c.1276A>G ;(p.M426V)

Variant ID: 10-96798669-T-C

NM_000770.3(CYP2C8):c.1276A>G;(p.M426V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: rs148348784
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
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Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis.

Pharmacogenetics And Genomics
Kaspera, Rüdiger R; Naraharisetti, Suresh B SB; Tamraz, Bani B; Sahele, Tariku T; Cheesman, Matthew J MJ; Kwok, Pui-Yan PY; Marciante, Kristin K; Heckbert, Susan R SR; Psaty, Bruce M BM; Totah, Rheem A RA
Publication Date: 2010-10

Variant appearance in text: CYP2C8: M426V
PubMed Link: 20739906
Variant Present in the following documents:
  • Main text
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