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.




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