TTN c.1633_1634delinsGC ;(p.K545A)

Variant ID: 2-179656827-TT-GC

NM_001267550.1(TTN):c.1633_1634delinsGC;(p.K545A)

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:

Peptide translocation by the lysosomal ABC transporter TAPL is regulated by coupling efficiency and activation energy.

Scientific Reports
Bock, Christoph C; Zollmann, Tina T; Lindt, Katharina-Astrid KA; Tampé, Robert R; Abele, Rupert R
Publication Date: 2019-08-15

Variant appearance in text: TMD: K545A
PubMed Link: 31417173
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_48343.pdf
View BVdb publication page