Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.E135insFs

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
2 papers
NM_014336.5
p.E135insFs
c.404_405insA
Surrounding Variants
1 paper
NM_014336.5
p.E135fs
c.403_404fs
1 paper
NM_014336.5
p.D136fs
c.406_407fs
1 paper
NM_014336.5
p.E135K
c.403G>A
12 papers
NM_014336.5
p.Y134F
c.401A>T
1 paper
NM_014336.5
p.L140P
c.419T>C
3 papers
NM_014336.5
p.H130Q
c.390C>G
3 papers
NM_014336.5
p.H130Q
c.390C>A
1 paper
NM_014336.5
p.H130delFs
c.389delT
13 papers
NM_014336.5
p.Q141*
c.421C>T
NM_001033055.3
p.Q81*
c.241C>T
1 paper
NM_014336.5
p.Y129delFs
c.387delG
1 paper
NM_014336.5
p.Q141H
c.423G>T
1 paper
NM_014336.5
p.Q141H
c.423G>C
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