Varaico: Literature-Extracted Genetic Variants

Gene:LDAH

LDAH

27 papers

Pfam Domains

LIDHydrolaseaa 43–303UCSCLipid-droplet associated hydrolase

Gene Aliases

HGNC Name

lipid droplet associated hydrolase

HGNC Previous Symbol

C2orf43

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
2 papers
NM_021925.4
p.S81G
c.241A>G
2 papers
NM_021925.4
p.A86V
c.257C>T
2 papers
NM_021925.4
p.I136T
c.407T>C
1 paper
NM_021925.4
p.E22K
c.64G>A
1 paper
NM_021925.4
p.K92E
c.274A>G
1 paper
NM_021925.4
p.T96fs
c.286_287fs
1 paper
NM_021925.4
p.E117K
c.349G>A
1 paper
NM_021925.4
p.P128L
c.383C>T
1 paper
NM_021925.4
p.S139A
c.415T>G
1 paper
NM_021925.4
p.R151Q
c.452G>A
1 paper
NM_021925.4
p.P156_V157Splc
c.469-2975A>C
1 paper
NM_021925.4
p.R159H
c.476G>A
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."