Variant ID: 1-25891691-TT-GC

NM_015627.2(LDLRAP1):c.775_776delinsGC;(p.Phe259Ala)

This variant was identified in 2 publications




Publications:


Cargo- and adaptor-specific mechanisms regulate clathrin-mediated endocytosis.

The Journal Of Cell Biology
M Mettlen, D Loerke, D Yarar, G Danuser, SL Schmid
Publication Date: 2010-03-22

Variant appearance in text: ARH: F259A
PubMed Link: 20231386
Variant Present in the following documents:
  • Main text
View BVdb publication page



A single common portal for clathrin-mediated endocytosis of distinct cargo governed by cargo-selective adaptors.

Molecular Biology Of The Cell
PA Keyel, SK Mishra, R Roth, JE Heuser, SC Watkins, LM Traub
Publication Date: 2006-10

Variant appearance in text: ARH: F259A
PubMed Link: 16870701
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000374338.4 c.775_776delinsGC p.Phe259Ala missense_variant 8/9 -
ENST00000470950.1 n.199_200delinsGC - non_coding_transcript_exon_variant 2/3 -
ENST00000474283.1 n.183_184delinsGC - non_coding_transcript_exon_variant 2/3 -
ENST00000484476.1 n.497_498delinsGC - non_coding_transcript_exon_variant 3/4 -
ENST00000488127.1 n.2626_2627delinsGC - non_coding_transcript_exon_variant 6/7 -
NM_015627.3 c.775_776delinsGC p.Phe259Ala missense_variant 8/9 -