Varaico: Literature-Extracted Genetic Variants

Gene:ORMDL1
Variant:p.F115insFs

ORMDL1

14 papers

Pfam Domains

ORMDLaa 11–146UCSCORMDL family

Gene Aliases

HGNC Name

ORMDL sphingolipid biosynthesis regulator 1

HGNC Previous Names

ORM1 (S. cerevisiae)-like 1; ORM1-like 1 (S. cerevisiae)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016467.5
p.F115insFs
c.344dupT
Surrounding Variants
1 paper
NM_016467.5
p.Y116fs
c.346_347fs
1 paper
NM_016467.5
p.G144C
c.430G>T
1 paper
NM_016467.5
p.N151S
c.452A>G
1 paper
NM_016467.5
p.S105Y
c.314C>A
1 paper
NM_016467.5
p.I104V
c.310A>G
1 paper
NM_016467.5
p.K100K
c.300G>A
1 paper
NM_016467.5
p.E73*
c.217G>T
1 paper
NM_016467.5
p.V62I
c.184G>A
1 paper
NM_016467.5
p.G59_M60delFs
c.176_180del5
1 paper
NM_016467.5
p.G59fs
c.175_176fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."