Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.M107L

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.M107L
c.319A>T
Surrounding Variants
1 paper
NM_014336.5
p.Q106*
c.316C>T
1 paper
NM_014336.5
p.Q109*
c.325C>T
1 paper
NM_014336.5
p.R105W
c.313A>T
1 paper
NM_014336.5
p.R105G
c.313A>G
1 paper
NM_014336.5
p.G110R
c.328G>C
1 paper
NM_014336.5
p.D112G
c.335A>G
3 papers
NM_014336.5
p.S101P
c.301T>C
5 papers
NM_014336.5
p.L100L
c.300A>G
14 papers
NM_014336.5
p.T114I
c.341C>T
4 papers
NM_014336.5
p.P98_I99ins8
c.292_296ins24
1 paper
NM_014336.5
p.W116L
c.347G>T
1 paper
NM_014336.5
p.Y97*
c.291C>G
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