Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1

AIPL1

337 papers

RefSeq Summary

Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagno...

Pfam Domains

PPIase_AIPaa 12–155UCSCAH receptor-interacting protein, N-terminal FKBP-type PPIase

Gene Aliases

HGNC Name

AIP like 1 HSP90 co-chaperone

HGNC Previous Symbol

LCA4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 408 variants
116 papers
NM_014336.5
p.W278*
c.834G>A
109 papers
NM_014336.5
p.W278*
c.833G>A
26 papers
NM_014336.5
p.R302L
c.905G>T
25 papers
NM_014336.5
p.C89R
c.265T>C
22 papers
NM_014336.5
p.C239R
c.715T>C
21 papers
NM_014336.5
p.G262S
c.784G>A
20 papers
NM_014336.5
p.V96I
c.286G>A
18 papers
NM_014336.5
p.D90H
c.268G>C
17 papers
NM_014336.5
p.V71F
c.211G>T
15 papers
NM_014336.5
p.H82Y
c.244C>T
15 papers
NM_014336.5
p.P376S
c.1126C>T
14 papers
NM_014336.5
p.T114I
c.341C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."