Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.P370L

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.P370L
c.1109C>T
Surrounding Variants
2 papers
NM_014336.5
p.P370S
c.1108C>T
1 paper
NM_014336.5
p.P370P
c.1110A>T
3 papers
NM_014336.5
p.P366R
c.1097C>G
1 paper
NM_014336.5
p.P366T
c.1096C>A
2 papers
NM_014336.5
p.A371_P374ins1
c.1111_1122dup12
1 paper
NM_014336.5
p.G365W
c.1093G>T
15 papers
NM_014336.5
p.P376S
c.1126C>T
4 papers
NM_014336.5
p.A364G
c.1091C>G
1 paper
NM_014336.5
p.A360P
c.1078G>C
1 paper
NM_014336.5
p.T356_S359del4
c.1066_1076del12
1 paper
NM_014336.5
p.S359F
c.1076C>T
1 paper
NM_014336.5
p.P358_S359insFs
c.1074_1075dupAT
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