Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.L147L

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.L147L
c.439C>T
Surrounding Variants
1 paper
NM_014336.5
p.L147P
c.440T>C
1 paper
NM_014336.5
p.V148A
c.443T>C
1 paper
NM_014336.5
p.Q145*
c.433C>T
1 paper
NM_014336.5
p.Y129_K142del14
c.385_425del42
2 papers
NM_014336.5
p.I151F
c.451A>T
1 paper
NM_014336.5
p.Y129_K142del0
c.386_424del39
1 paper
NM_014336.5
p.Q141H
c.423G>T
1 paper
NM_014336.5
p.Q141H
c.423G>C
13 papers
NM_014336.5
p.Q141*
c.421C>T
NM_001033055.3
p.Q81*
c.241C>T
1 paper
NM_014336.5
p.L153V
c.457C>G
1 paper
NM_014336.5
p.L140P
c.419T>C
1 paper
NM_014336.5
p.Q141_L154del0
c.422_460del39
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