AHSA1 c.247_248delinsGC ;(p.W83A)

Variant ID: 14-77926125-TG-GC

NM_012111.2(AHSA1):c.247_248delinsGC;(p.W83A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


FKBP8 protects the heart from hemodynamic stress by preventing the accumulation of misfolded proteins and endoplasmic reticulum-associated apoptosis in mice.

Journal Of Molecular And Cellular Cardiology
Misaka, Tomofumi T; Murakawa, Tomokazu T; Nishida, Kazuhiko K; Omori, Yosuke Y; Taneike, Manabu M; Omiya, Shigemiki S; Molenaar, Chris C; Uno, Yoshihiro Y; Yamaguchi, Osamu O; Takeda, Junji J; Shah, Ajay M AM; Otsu, Kinya K
Publication Date: 2018-01

Variant appearance in text: Aha1: W83A
PubMed Link: 29129702
Variant Present in the following documents:
  • main.pdf
View BVdb publication page