Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.R38fs

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.R38fs
c.112_113fs
Surrounding Variants
10 papers
NM_014336.5
p.R38C
c.112C>T
1 paper
NM_014336.5
p.F35_R38insFs
c.105_112dup8
3 papers
NM_014336.5
p.F37delFs
c.111delG
3 papers
NM_014336.5
p.F37F
c.111C>T
1 paper
NM_014336.5
p.F37L
c.111C>G
1 paper
NM_014336.5
p.F37L
c.111C>A
1 paper
NM_014336.5
p.H36delFs
c.108delA
2 papers
NM_014336.5
p.R38fs
c.112_113fs
1 paper
NM_014336.5
p.F37L
c.109T>C
9 papers
NM_014336.5
p.T39N
c.116C>A
6 papers
NM_014336.5
p.V33insFs
c.98_99ins8
1 paper
NM_014336.5
p.F35L
c.105T>G
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