Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.W222*

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
5 papers
NM_014336.5
p.W222*
c.665G>A
Surrounding Variants
1 paper
NM_014336.5
p.W222R
c.664T>C
1 paper
NM_014336.5
p.W222R
c.664T>A
5 papers
NM_014336.5
p.W222*
c.666G>A
1 paper
NM_014336.5
p.L223fs
c.667_668fs
1 paper
NM_014336.5
p.Q221R
c.662A>G
1 paper
NM_014336.5
p.L223insFs
c.668dupT
1 paper
NM_014336.5
p.K224N
c.672G>T
1 paper
NM_014336.5
p.K224_L225insFs
c.672_673insC
1 paper
NM_014336.5
p.K224N
c.672G>C
1 paper
NM_014336.5
p.L225L
c.673C>T
1 paper
NM_001033054.3
p.W155C
c.465G>T
2 papers
NM_014336.5
p.W218*
c.654G>A
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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."