Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.Y134F

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
12 papers
NM_014336.5
p.Y134F
c.401A>T
Surrounding Variants
1 paper
NM_014336.5
p.E135K
c.403G>A
1 paper
NM_014336.5
p.E135fs
c.403_404fs
2 papers
NM_014336.5
p.E135insFs
c.404_405insA
1 paper
NM_014336.5
p.D136fs
c.406_407fs
3 papers
NM_014336.5
p.H130Q
c.390C>G
3 papers
NM_014336.5
p.H130Q
c.390C>A
1 paper
NM_014336.5
p.H130delFs
c.389delT
1 paper
NM_014336.5
p.Y129delFs
c.387delG
1 paper
NM_014336.5
p.Y129*
c.387C>G
1 paper
NM_014336.5
p.Y129F
c.386A>T
1 paper
NM_014336.5
p.L140P
c.419T>C
1 paper
NM_014336.5
p.A128V
c.383C>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."