Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.S359fs

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.S359fs
c.1075_1076fs
Surrounding Variants
1 paper
NM_014336.5
p.S359F
c.1076C>T
1 paper
NM_014336.5
p.P358_S359insFs
c.1074_1075dupAT
1 paper
NM_014336.5
p.A357_S359delFs
c.1069_1075del7
1 paper
NM_014336.5
p.P358insFs
c.1073_1074ins4
1 paper
NM_014336.5
p.A360P
c.1078G>C
1 paper
NM_014336.5
p.T356_S359del4
c.1066_1076del12
2 papers
NM_001285399.3
p.A340_P343ins1
c.1018_1029dup12
NM_014336.5
p.A352_P355ins1
c.1054_1065dup12
8 papers
NM_014336.5
p.P351_P355del0
c.1053_1064del12
1 paper
NM_014336.5
p.P354R
c.1061C>G
1 paper
NM_014336.5
p.E353insFs
c.1059dupG
1 paper
NM_014336.5
p.P354T
c.1060C>A
4 papers
NM_014336.5
p.A364G
c.1091C>G
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."