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CFTR c.979C>A ;(p.L327I)
Variant ID: 7-117180263-C-A
NM_000492.3(
CFTR
):c.979C>A;(p.L327I)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Correlation of changes in subclonal architecture with progression in the MMRF CoMMpass study.
Translational Oncology
Kaur, Gurvinder G; Jena, Lingaraja L; Gupta, Ritu R; Farswan, Akanksha A; Gupta, Anubha A; Sriram, K K
Publication Date: 2022-06-28
Variant appearance in text: CFTR: 979C>A; Leu327Ile
PubMed Link:
35777247
Variant Present in the following documents:
mmc5.xls, sheet 3
View BVdb publication page
Exploring structural dynamics of a membrane protein by combining bioorthogonal chemistry and cysteine mutagenesis.
Elife
Gupta, Kanchan K; Toombes, Gilman Es GE; Swartz, Kenton J KJ
Publication Date: 2019-11-12
Variant appearance in text: CFTR: L327I
PubMed Link:
31714877
Variant Present in the following documents:
Main text
elife-50776.pdf
View BVdb publication page