Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.D255Y

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.D255Y
c.763G>T
Surrounding Variants
4 papers
NM_014336.5
p.I256S
c.767T>G
3 papers
NM_014336.5
p.L257F
c.769C>T
1 paper
NM_014336.5
p.R258W
c.772C>T
5 papers
NM_014336.5
p.R258P
c.773G>C
1 paper
NM_014336.5
p.R258Q
c.773G>A
1 paper
NM_014336.5
p.L250P
c.749T>C
1 paper
NM_014336.5
p.V249A
c.746T>C
2 papers
NM_014336.5
p.V249fs
c.745_746fs
1 paper
NM_014336.5
p.E245_E248del0
c.735_743del9
7 papers
NM_014336.5
p.G262S
c.784G>A
1 paper
NM_014336.5
p.P261delFs
c.783delT
1 paper
NM_014336.5
p.Y247*
c.741T>G
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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."