Varaico: Literature-Extracted Genetic Variants

Gene:HACD1
Variant:p.G13D

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
3 papers
NM_014241.4
p.G13D
c.38G>A
Surrounding Variants
1 paper
NM_014241.4
p.G13V
c.38G>T
3 papers
NM_014241.4
p.G13C
c.37G>T
1 paper
NM_014241.4
p.G13R
c.37G>C
1 paper
NM_014241.4
p.G11D
c.32G>A
1 paper
NM_014241.4
p.A9S
c.25G>T
1 paper
NM_014241.4
p.W19L
c.56G>T
1 paper
NM_014241.4
p.A7V
c.20C>T
1 paper
NM_014241.4
p.W19*
c.57G>A
2 papers
NM_014241.4
p.T5M
c.14C>T
3 papers
NM_014241.4
p.L4L
c.12G>C
4 papers
NM_014241.4
p.L4L
c.12G>A
1 paper
NM_014241.4
p.M1I
c.3G>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."