Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.E349fs

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.E349fs
c.1045_1046fs
Surrounding Variants
1 paper
NM_014336.5
p.S346S
c.1038A>G
1 paper
NM_014336.5
p.A344A
c.1032A>G
1 paper
NM_014336.5
p.E353insFs
c.1059dupG
1 paper
NM_014336.5
p.P354T
c.1060C>A
1 paper
NM_014336.5
p.P354R
c.1061C>G
8 papers
NM_014336.5
p.P351_P355del0
c.1053_1064del12
2 papers
NM_001285399.3
p.A340_P343ins1
c.1018_1029dup12
NM_014336.5
p.A352_P355ins1
c.1054_1065dup12
2 papers
NM_014336.5
p.E341E
c.1023G>A
NM_001033054.3
p.E278E
c.834G>A
1 paper
NM_014336.5
p.T340insFs
c.1018dupA
1 paper
NM_014336.5
p.T340fs
c.1018_1019fs
1 paper
NM_014336.5
p.P358insFs
c.1073_1074ins4
1 paper
NM_014336.5
p.S359fs
c.1075_1076fs
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."