Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.T114I

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
14 papers
NM_014336.5
p.T114I
c.341C>T
Surrounding Variants
1 paper
NM_014336.5
p.W116L
c.347G>T
1 paper
NM_014336.5
p.D112G
c.335A>G
1 paper
NM_014336.5
p.W116delFs
c.348delC
1 paper
NM_014336.5
p.G110R
c.328G>C
1 paper
NM_014336.5
p.H119R
c.356A>G
1 paper
NM_014336.5
p.Q109*
c.325C>T
1 paper
NM_014336.5
p.H119_T120delFs
c.356_359del4
1 paper
NM_014336.5
p.M107L
c.319A>T
10 papers
NM_014336.5
p.G122R
c.364G>C
10 papers
NM_014336.5
p.G122R
c.364G>A
1 paper
NM_014336.5
p.G122E
c.365G>A
1 paper
NM_014336.5
p.Q106*
c.316C>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."