CFTR c.910_911delinsGC ;(p.Y304A)

Variant ID: 7-117180194-TA-GC

NM_000492.3(CFTR):c.910_911delinsGC;(p.Y304A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of binding sites for ivacaftor on the cystic fibrosis transmembrane conductance regulator.

Iscience
Laselva, Onofrio O; Qureshi, Zafar Z; Zeng, Zhi-Wei ZW; Petrotchenko, Evgeniy V EV; Ramjeesingh, Mohabir M; Hamilton, C Michael CM; Huan, Ling-Jun LJ; Borchers, Christoph H CH; Pomès, Régis R; Young, Robert R; Bear, Christine E CE
Publication Date: 2021-06-25

Variant appearance in text: CFTR: Y304A
PubMed Link: 34142049
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Structural identification of a hotspot on CFTR for potentiation.

Science (New York, N.Y.)
Liu, Fangyu F; Zhang, Zhe Z; Levit, Anat A; Levring, Jesper J; Touhara, Kouki K KK; Shoichet, Brian K BK; Chen, Jue J
Publication Date: 2019-06-21

Variant appearance in text: CFTR: Y304A
PubMed Link: 31221859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

The Journal Of General Physiology
Yeh, Han-I HI; Qiu, Liming L; Sohma, Yoshiro Y; Conrath, Katja K; Zou, Xiaoqin X; Hwang, Tzyh-Chang TC
Publication Date: 2019-07-01

Variant appearance in text: CFTR: Y304A
PubMed Link: 31164398
Variant Present in the following documents:
  • Main text
  • JGP_201912360_sm.pdf
  • JGP_201912360.pdf
View BVdb publication page