Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.N279S

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.N279S
c.836A>G
Surrounding Variants
1 paper
NM_014336.5
p.N279D
c.835A>G
1 paper
NM_014336.5
p.W278C
c.834G>T
1 paper
NM_014336.5
p.W278C
c.834G>C
118 papers
NM_014336.5
p.W278*
c.834G>A
NM_001033054.3
p.W215*
c.645G>A
111 papers
NM_014336.5
p.W278*
c.833G>A
NM_001033054.3
p.W215*
c.644G>A
1 paper
NM_014336.5
p.E280V
c.839A>T
1 paper
NM_014336.5
p.W278R
c.832T>C
1 paper
NM_014336.5
p.W278R
c.832T>A
1 paper
NM_001033054.3
p.V214V
c.642G>C
1 paper
NM_014336.5
p.E282*
c.844G>T
1 paper
NM_014336.5
p.E276D
c.828G>C
1 paper
NM_014336.5
p.E276*
c.826G>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."