Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.I92_H93Splc

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.I92_H93Splc
c.277-10A>G
Surrounding Variants
2 papers
NM_014336.5
p.I92_H93Splc
c.277-10A>C
11 papers
NM_014336.5
p.I92_H93Splc
c.277-2A>G
2 papers
NM_014336.5
p.H93fs
c.277_278fs
1 paper
NM_001033055.3
p.H33insFs
c.98_99ins8
1 paper
NM_001033055.3
p.H33_G35insFs
c.97_104dup8
1 paper
NM_014336.5
p.V96F
c.286G>T
2 papers
NM_014336.5
p.V96_Y97ins8
c.286_290ins24
1 paper
NM_014336.5
p.V96L
c.286G>C
20 papers
NM_014336.5
p.V96I
c.286G>A
1 paper
NM_014336.5
p.Y97*
c.291C>G
4 papers
NM_014336.5
p.P98_I99ins8
c.292_296ins24
5 papers
NM_014336.5
p.L100L
c.300A>G
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