Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.I263fs

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
Selected Variant
1 paper
NM_014336.5
p.I263fs
c.787_788fs
Surrounding Variants
3 papers
NM_014336.5
p.G262fs
c.784_785fs
1 paper
NM_014336.5
p.G262Splc
c.785-1G>C
21 papers
NM_014336.5
p.G262S
c.784G>A
1 paper
NM_014336.5
p.V269M
c.805G>A
8 papers
NM_014336.5
p.R270H
c.809G>A
3 papers
NM_014336.5
p.R272P
c.815G>C
1 paper
NM_014336.5
p.E276*
c.826G>T
1 paper
NM_014336.5
p.E276D
c.828G>C
1 paper
NM_001033054.3
p.V214V
c.642G>C
1 paper
NM_014336.5
p.W278R
c.832T>C
1 paper
NM_014336.5
p.W278R
c.832T>A
111 papers
NM_014336.5
p.W278*
c.833G>A
NM_001033054.3
p.W215*
c.644G>A
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