ABCA4 c.5029_5030inv ;(p.S1677E)

Variant ID: 1-94485304-GA-TC

NM_000350.2(ABCA4):c.5029_5030inv;(p.S1677E)

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:

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: S1677E
PubMed Link: 34158497
Variant Present in the following documents:
  • Main text
  • 41467_2021_24194_MOESM2_ESM.pdf
  • 41467_2021_24194_MOESM1_ESM.pdf
  • 41467_2021_Article_24194.pdf
View BVdb publication page