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ABCA4 c.5434_5435delinsGC ;(p.I1812A)
Variant ID: 1-94480124-AT-GC
NM_000350.2(
ABCA4
):c.5434_5435delinsGC;(p.I1812A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt Disease.
The Journal Of Biological Chemistry
Xu, Tongzhou T; Molday, LaurieL L; Molday, RobertS R
Publication Date: 2023-03-15
Variant appearance in text: ABCA4: I1812A
PubMed Link:
36931393
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Structural basis of substrate recognition and translocation by human ABCA4.
Nature Communications
Xie, Tian T; Zhang, Zike Z; Fang, Qi Q; Du, Bowen B; Gong, Xin X
Publication Date: 2021-06-22
Variant appearance in text: ABCA4: I1812A
PubMed Link:
34158497
Variant Present in the following documents:
41467_2021_Article_24194.pdf
41467_2021_24194_MOESM1_ESM.pdf
View BVdb publication page