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TG c.298_300delinsGAC ;(p.K100D)
Variant ID: 8-133883616-AAA-GAC
NM_003235.4(
TG
):c.298_300delinsGAC;(p.K100D)
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:
Lysosomal targeting of the ABC transporter TAPL is determined by membrane-localized charged residues.
The Journal Of Biological Chemistry
Graab, Philipp P; Bock, Christoph C; Weiss, Konstantin K; Hirth, Alexander A; Koller, Nicole N; Braner, Markus M; Jung, Jennifer J; Loehr, Frank F; Tampé, Robert R; Behrends, Christian C; Abele, Rupert R
Publication Date: 2019-05-03
Variant appearance in text: TGN: K100D
PubMed Link:
30877195
Variant Present in the following documents:
Main text
View BVdb publication page