Varaico: Literature-Extracted Genetic Variants

Gene:NCEH1
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
1 paper
NM_020792.6
p.A16T
c.46G>A
1 paper
NM_020792.6
p.L23del1
c.67_68delCAG
1 paper
NM_020792.6
p.D29N
c.85G>A
1 paper
NM_020792.6
p.D37N
c.109G>A
1 paper
NM_020792.6
p.G42D
c.125G>A
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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."