Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.V249fs

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.V249fs
c.745_746fs
Surrounding Variants
1 paper
NM_014336.5
p.E245_E248del0
c.735_743del9
1 paper
NM_014336.5
p.V249A
c.746T>C
1 paper
NM_014336.5
p.Y247*
c.741T>G
1 paper
NM_014336.5
p.L250P
c.749T>C
1 paper
NM_014336.5
p.Y247*
c.741T>A
1 paper
NM_014336.5
p.Y246*
c.738C>G
1 paper
NM_014336.5
p.E245_Y246ins0
c.735_737dupGTA
1 paper
NM_014336.5
p.Y246*
c.738C>A
3 papers
NM_014336.5
p.Y246S
c.737A>C
3 papers
NM_014336.5
p.E245del1
c.733_734delCTC
1 paper
NM_014336.5
p.E245insFs
c.733dupG
2 papers
NM_014336.5
p.E245*
c.733G>T
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