Varaico: Literature-Extracted Genetic Variants

Gene:AIPL1
Variant:p.M126R

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.M126R
c.377T>G
Surrounding Variants
1 paper
NM_014336.5
p.M126K
c.377T>A
1 paper
NM_001033055.3
p.F67F
c.201C>T
1 paper
NM_014336.5
p.F127delFs
c.381delG
1 paper
NM_014336.5
p.A128V
c.383C>T
1 paper
NM_014336.5
p.Y129F
c.386A>T
1 paper
NM_014336.5
p.Y129*
c.387C>G
1 paper
NM_014336.5
p.G122delFs
c.364delC
1 paper
NM_014336.5
p.G122E
c.365G>A
1 paper
NM_014336.5
p.Y129delFs
c.387delG
10 papers
NM_014336.5
p.G122R
c.364G>C
10 papers
NM_014336.5
p.G122R
c.364G>A
3 papers
NM_014336.5
p.H130Q
c.390C>G
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