CFTR c.280_281delinsCT ;(p.T94L)

Variant ID: 7-117170959-AC-CT

NM_000492.3(CFTR):c.280_281delinsCT;(p.T94L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Systematic profiling of temperature- and retinal-sensitive rhodopsin variants by deep mutational scanning.

The Journal Of Biological Chemistry
McKee, Andrew G AG; Kuntz, Charles P CP; Ortega, Joseph T JT; Woods, Hope H; Most, Victoria V; Roushar, Francis J FJ; Meiler, Jens J; Jastrzebska, Beata B; Schlebach, Jonathan P JP
Publication Date: 2021-12

Variant appearance in text: CFTR: T94L
PubMed Link: 34756884
Variant Present in the following documents:
  • main.pdf
View BVdb publication page