Varaico: Literature-Extracted Genetic Variants

Gene:NCEH1
Variant:p.Q158R

NCEH1

18 papers

Pfam Domains

Abhydrolase_3aa 109–284UCSCalpha/beta hydrolase fold
Abhydrolase_3aa 295–382UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

neutral cholesterol ester hydrolase 1

HGNC Previous Symbol

AADACL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020792.6
p.Q158R
c.473A>G
Surrounding Variants
1 paper
NM_020792.6
p.Q202R
c.605A>G
1 paper
NM_020792.6
p.G258D
c.773G>A
1 paper
NM_020792.6
p.E277K
c.829G>A
1 paper
NM_020792.6
p.R285C
c.853C>T
1 paper
NM_020792.6
p.S295Y
c.884C>A
1 paper
NM_020792.6
p.K123Splc
c.368-52G>T
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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."