Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.C89Y

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
3 papers
NM_014336.5
p.C89Y
c.266G>A
Surrounding Variants
1 paper
NM_014336.5
p.C89F
c.266G>T
25 papers
NM_014336.5
p.C89R
c.265T>C
1 paper
NM_014336.5
p.C89C
c.267C>T
18 papers
NM_014336.5
p.D90H
c.268G>C
5 papers
NM_014336.5
p.W88*
c.264G>A
5 papers
NM_014336.5
p.W88*
c.263G>A
1 paper
NM_014336.5
p.T91I
c.272C>T
1 paper
NM_014336.5
p.E86K
c.256G>A
4 papers
NM_014336.5
p.I92_H93Splc
c.276+1G>A
4 papers
NM_014336.5
p.I92_H93Splc
c.276+2T>C
1 paper
NM_014336.5
p.E83_A85ins1
c.248_253dup6
1 paper
NM_014336.5
p.I92_H93Splc
c.276+5G>A
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