Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.A300G

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.A300G
c.899C>G
Surrounding Variants
1 paper
NM_014336.5
p.K299insFs
c.896_897insT
3 papers
NM_014336.5
p.Q298H
c.894G>T
3 papers
NM_014336.5
p.Q298H
c.894G>C
27 papers
NM_014336.5
p.R302L
c.905G>T
NM_001033054.3
p.R239L
c.716G>T
1 paper
NM_014336.5
p.R302P
c.905G>C
1 paper
NM_014336.5
p.M297V
c.889A>G
2 papers
NM_014336.5
p.E304*
c.910G>T
1 paper
NM_014336.5
p.P295delFs
c.885delC
6 papers
NM_014336.5
p.L293P
c.878T>C
1 paper
NM_014336.5
p.L307delFs
c.920delA
1 paper
NM_001033054.3
p.L228_L230Fs
c.683_688delinsAFs
2 papers
NM_014336.5
p.L308P
c.923T>C
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