CFTR c.1829T>C ;(p.L610S)

Variant ID: 7-117232050-T-C

NM_000492.3(CFTR):c.1829T>C;(p.L610S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTATM.

Journal Of Personalized Medicine
Laselva, Onofrio O; Ardelean, Maria C MC; Bear, Christine E CE
Publication Date: 2021-04-15

Variant appearance in text: CFTR: L610S
PubMed Link: 33920764
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CFTR: L610S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society
Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A
Publication Date: 2010-11

Variant appearance in text: CFTR: L610S
PubMed Link: 20799350
Variant Present in the following documents:
  • Main text
View BVdb publication page