Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.W72R

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
6 papers
NM_014336.5
p.W72R
c.214T>C
Surrounding Variants
6 papers
NM_014336.5
p.W72R
c.214T>A
6 papers
NM_014336.5
p.W72S
c.215G>C
4 papers
NM_014336.5
p.W72*
c.215G>A
4 papers
NM_014336.5
p.W72*
c.216G>A
17 papers
NM_014336.5
p.V71F
c.211G>T
1 paper
NM_014336.5
p.E70delFs
c.208delC
1 paper
NM_014336.5
p.I74T
c.221T>C
1 paper
NM_014336.5
p.L75fs
c.223_224fs
1 paper
NM_014336.5
p.L75R
c.224T>G
1 paper
NM_014336.5
p.F67F
c.201C>T
1 paper
NM_014336.5
p.F67C
c.200T>G
1 paper
NM_014336.5
p.L76L
c.228T>C
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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."