Varaico: Literature-Extracted Genetic Variants

Gene:HACD2

HACD2

13 papers

RefSeq Summary

The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic ...

Pfam Domains

PTPLAaa 85–246UCSCProtein tyrosine phosphatase-like protein, PTPLA

Gene Aliases

HGNC Name

3-hydroxyacyl-CoA dehydratase 2

HGNC Previous Symbol

PTPLB

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
1 paper
NM_198402.5
p.A2V
c.5C>T
1 paper
NM_198402.5
p.G21E
c.62G>A
1 paper
NM_198402.5
p.D24A
c.71A>C
1 paper
NM_198402.5
p.A25D
c.74C>A
1 paper
NM_198402.5
p.G27S
c.79G>A
1 paper
NM_198402.5
p.E91A
c.272A>C
1 paper
NM_198402.5
p.P101R
c.302C>G
1 paper
NM_198402.5
p.V125I
c.373G>A
1 paper
NM_198402.5
p.S133N
c.398G>A
1 paper
NM_198402.5
p.R148H
c.443G>A
1 paper
NM_198402.5
p.I164F
c.490A>T
1 paper
NM_198402.5
p.Y215H
c.643T>C
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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."