MYH7 c.790G>A ;(p.E264K)

Variant ID: 14-23900633-C-T

NM_000257.2(MYH7):c.790G>A;(p.E264K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: MYH7: E264K
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32
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In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

Circulation Research
Harris, Samantha P SP; Lyons, Ross G RG; Bezold, Kristina L KL
Publication Date: 2011-03-18

Variant appearance in text: MYH7: E264K
PubMed Link: 21415409
Variant Present in the following documents:
  • Main text
View BVdb publication page