Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.Q288*

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
2 papers
NM_014336.5
p.Q288*
c.862C>T
Surrounding Variants
2 papers
NM_014336.5
p.D286V
c.857A>T
1 paper
NM_014336.5
p.D286H
c.856G>C
1 paper
NM_014336.5
p.A285E
c.854C>A
2 papers
NM_014336.5
p.A285T
c.853G>A
1 paper
NM_001033054.3
p.L228fs
c.682_683fs
1 paper
NM_014336.5
p.E282_K284insFs
c.844_850dup7
4 papers
NM_014336.5
p.E282_A283ins0
c.844_849dup6
1 paper
NM_001033054.3
p.L228_L230Fs
c.683_688delinsAFs
6 papers
NM_014336.5
p.L293P
c.878T>C
1 paper
NM_014336.5
p.E282*
c.844G>T
1 paper
NM_014336.5
p.E280V
c.839A>T
1 paper
NM_014336.5
p.P295delFs
c.885delC
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