Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.F35fs

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
3 papers
NM_014336.5
p.F35fs
c.103_104fs
Surrounding Variants
1 paper
NM_014336.5
p.F35L
c.103T>C
6 papers
NM_014336.5
p.V33insFs
c.98_99ins8
1 paper
NM_014336.5
p.F35L
c.105T>G
1 paper
NM_014336.5
p.F35L
c.105T>A
2 papers
NM_014336.5
p.I34fs
c.100_101fs
1 paper
NM_014336.5
p.V33fs
c.97_98fs
2 papers
NM_014336.5
p.V33A
c.98T>C
1 paper
NM_014336.5
p.F37L
c.109T>C
2 papers
NM_014336.5
p.V33fs
c.97_98fs
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."