ABCA1 c.4957_4961del ;(p.V1653Cfs*48)

Variant ID: 9-107560861-ATCCAC-A

NM_005502.3(ABCA1):c.4957_4961del;(p.V1653Cfs*48)

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:

Protein kinase C controls vesicular transport and secretion of apolipoprotein E from primary human macrophages.

The Journal Of Biological Chemistry
Karunakaran, Denuja D; Kockx, Maaike M; Owen, Dylan M DM; Burnett, John R JR; Jessup, Wendy W; Kritharides, Leonard L
Publication Date: 2013-02-15

Variant appearance in text: ABCA1: 4957_4961del; Val1653CysfsX48
PubMed Link: 23288845
Variant Present in the following documents:
  • Main text
View BVdb publication page