LDLRAP1 c.124_125delinsGC ;(p.L42A)

Variant ID: 1-25880448-CT-GC

NM_015627.2(LDLRAP1):c.124_125delinsGC;(p.L42A)

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:

Slow endocytosis of the LDL receptor-related protein 1B: implications for a novel cytoplasmic tail conformation.

Experimental Cell Research
Knisely, Jane M JM; Li, Yonghe Y; Griffith, Janice M JM; Geuze, Hans J HJ; Schwartz, Alan L AL; Bu, Guojun G
Publication Date: 2007-09-10

Variant appearance in text: ARH: L42A
PubMed Link: 17658514
Variant Present in the following documents:
  • Main text
View BVdb publication page