Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.A313G

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.A313G
c.938C>G
Surrounding Variants
4 papers
NM_014336.5
p.A313S
c.937G>T
1 paper
NM_014336.5
p.A313insFs
c.937_938insT
1 paper
NM_014336.5
p.R311delFs
c.931delG
1 paper
NM_014336.5
p.K315N
c.945G>T
1 paper
NM_014336.5
p.K315N
c.945G>C
1 paper
NM_014336.5
p.R311fs
c.931_932fs
2 papers
NM_014336.5
p.E317*
c.949G>T
1 paper
NM_014336.5
p.E309D
c.927G>T
1 paper
NM_014336.5
p.E309D
c.927G>C
3 papers
NM_014336.5
p.E309ins6
c.926_927ins18
1 paper
NM_014336.5
p.E309ins1
c.926_927insCCT
1 paper
NM_014336.5
p.E318K
c.952G>A
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