Varaico: Literature-Extracted Genetic Variants

Gene:ORMDL2

ORMDL2

14 papers

Pfam Domains

ORMDLaa 11–146UCSCORMDL family

Gene Aliases

HGNC Name

ORMDL sphingolipid biosynthesis regulator 2

HGNC Alias Symbols

HSPC160; adoplin-2; MST095; MSTP095

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_014182.5
p.P137L
c.410C>T
1 paper
NM_014182.5
p.R15*
c.43C>T
1 paper
NM_014182.5
p.G21R
c.61G>C
1 paper
NM_014182.5
p.S39C
c.115A>T
1 paper
NM_014182.5
p.N53H
c.157A>C
1 paper
NM_014182.5
p.T96A
c.286A>G
1 paper
NM_014182.5
p.I126I
c.378C>A
1 paper
NM_014182.5
p.V147fs
c.439_440fs
1 paper
NM_014182.5
p.G149C
c.445G>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."