SI c.580_581delinsTG ;(p.V194C)

Variant ID: 3-164785182-AC-CA

NM_001041.3(SI):c.580_581delinsTG;(p.V194C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disordered clusters of Bak dimers rupture mitochondria during apoptosis.

Elife
Uren, Rachel T RT; O'Hely, Martin M; Iyer, Sweta S; Bartolo, Ray R; Shi, Melissa X MX; Brouwer, Jason M JM; Alsop, Amber E AE; Dewson, Grant G; Kluck, Ruth M RM
Publication Date: 2017-02-06

Variant appearance in text: SI: V194C
PubMed Link: 28182867
Variant Present in the following documents:
  • elife-19944.pdf
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Apoptotic pore formation is associated with in-plane insertion of Bak or Bax central helices into the mitochondrial outer membrane.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Westphal, Dana D; Dewson, Grant G; Menard, Marie M; Frederick, Paul P; Iyer, Sweta S; Bartolo, Ray R; Gibson, Leonie L; Czabotar, Peter E PE; Smith, Brian J BJ; Adams, Jerry M JM; Kluck, Ruth M RM
Publication Date: 2014-09-30

Variant appearance in text: SI: V194C
PubMed Link: 25228770
Variant Present in the following documents:
  • Main text
View BVdb publication page