Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.T47_S52delFs

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.T47_S52delFs
c.141_154del14
Surrounding Variants
7 papers
NM_014336.5
p.R53W
c.157C>T
4 papers
NM_014336.5
p.D51G
c.152A>G
1 paper
NM_014336.5
p.D51ins1
c.151_152insCAA
1 paper
NM_014336.5
p.I49T
c.146T>C
1 paper
NM_014336.5
p.D51_Q54del0
c.151_162del12
1 paper
NM_014336.5
p.D43_V48delFs
c.129_142del14
1 paper
NM_014336.5
p.T47Fs
c.139_140delinsAFs
5 papers
NM_014336.5
p.T47R
c.140C>G
1 paper
NM_014336.5
p.P58A
c.172C>G
1 paper
NM_014336.5
p.D50_Q57insFs
c.148_170dup23
1 paper
NM_014336.5
p.R46L
c.137G>T
1 paper
NM_014336.5
p.H60fs
c.178_179fs
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