Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.R80W

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
2 papers
NM_014336.5
p.R80W
c.238C>T
Surrounding Variants
1 paper
NM_014336.5
p.M79I
c.237G>T
1 paper
NM_014336.5
p.M79I
c.237G>C
1 paper
NM_014336.5
p.M79I
c.237G>A
9 papers
NM_014336.5
p.M79T
c.236T>C
1 paper
NM_014336.5
p.V81M
c.241G>A
15 papers
NM_014336.5
p.H82Y
c.244C>T
4 papers
NM_014336.5
p.E83K
c.247G>A
1 paper
NM_014336.5
p.L76L
c.228T>C
1 paper
NM_014336.5
p.E83insFs
c.247_248dupGA
1 paper
NM_014336.5
p.V84M
c.250G>A
1 paper
NM_014336.5
p.L75R
c.224T>G
1 paper
NM_014336.5
p.L75fs
c.223_224fs
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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."