Varaico: Literature-Extracted Genetic Variants

Gene:HACD1
Variant:p.S33A

HACD1

254 papers

RefSeq Summary

The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue r...

Pfam Domains

PTPLAaa 119–280UCSCProtein tyrosine phosphatase-like protein, PTPLA

Gene Aliases

HGNC Name

3-hydroxyacyl-CoA dehydratase 1

HGNC Previous Symbol

PTPLA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014241.4
p.S33A
c.97T>G
Surrounding Variants
1 paper
NM_014241.4
p.P34S
c.100C>T
1 paper
NM_014241.4
p.S30T
c.88T>A
1 paper
NM_014241.4
p.A37A
c.111G>A
1 paper
NM_014241.4
p.M40T
c.119T>C
1 paper
NM_014241.4
p.T25R
c.74C>G
1 paper
NM_014241.4
p.T25A
c.73A>G
1 paper
NM_014241.4
p.S42C
c.125C>G
1 paper
NM_014241.4
p.S43R
c.127A>C
1 paper
NM_014241.4
p.S43R
c.129C>G
1 paper
NM_014241.4
p.S43R
c.129C>A
1 paper
NM_014241.4
p.E45A
c.134A>C
1 paper
NM_014241.4
p.D46H
c.136G>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."