ABCA4 c.1033_1034delinsGC ;(p.Y345A)

Variant ID: 1-94546099-TA-GC

NM_000350.2(ABCA4):c.1033_1034delinsGC;(p.Y345A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.

Nature Communications
Scortecci, Jessica Fernandes JF; Molday, Laurie L LL; Curtis, Susan B SB; Garces, Fabian A FA; Panwar, Pankaj P; Van Petegem, Filip F; Molday, Robert S RS
Publication Date: 2021-10-08

Variant appearance in text: ABCA4: Y345A
PubMed Link: 34625547
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26161.pdf
  • 41467_2021_26161_MOESM4_ESM.xlsx, sheet 2
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: Y345A
PubMed Link: 34158497
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_24194.pdf
  • 41467_2021_24194_MOESM1_ESM.pdf
  • 41467_2021_24194_MOESM2_ESM.pdf
View BVdb publication page