AHSA1 c.454A>C ;(p.I152L)

Variant ID: 14-77929084-A-C

NM_012111.2(AHSA1):c.454A>C;(p.I152L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Chaperones rescue the energetic landscape of mutant CFTR at single molecule and in cell.

Nature Communications
Bagdany, Miklos M; Veit, Guido G; Fukuda, Ryosuke R; Avramescu, Radu G RG; Okiyoneda, Tsukasa T; Baaklini, Imad I; Singh, Jay J; Sovak, Guy G; Xu, Haijin H; Apaja, Pirjo M PM; Sattin, Sara S; Beitel, Lenore K LK; Roldan, Ariel A; Colombo, Giorgio G; Balch, William W; Young, Jason C JC; Lukacs, Gergely L GL
Publication Date: 2017-08-30

Variant appearance in text: Aha1: I152L
PubMed Link: 28855508
Variant Present in the following documents:
  • Main text
  • 41467_2017_Article_444.pdf
View BVdb publication page