Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.P58A

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.P58A
c.172C>G
Surrounding Variants
1 paper
NM_014336.5
p.D50_Q57insFs
c.148_170dup23
1 paper
NM_014336.5
p.H60fs
c.178_179fs
2 papers
NM_014336.5
p.H60insFs
c.178dupC
1 paper
NM_014336.5
p.D51_Q54del0
c.151_162del12
1 paper
NM_014336.5
p.H60fs
c.178_179fs
2 papers
NM_014336.5
p.I61F
c.181A>T
1 paper
NM_014336.5
p.H60delFs
c.180delG
1 paper
NM_014336.5
p.I61T
c.182T>C
1 paper
NM_014336.5
p.I61delFs
c.182delA
7 papers
NM_014336.5
p.R53W
c.157C>T
1 paper
NM_014336.5
p.T47_S52delFs
c.141_154del14
3 papers
NM_014336.5
p.G64R
c.190G>C
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