Varaico: Literature-Extracted Genetic Variants

Gene:HACD1
Variant:p.A55A

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.A55A
c.165C>A
Surrounding Variants
1 paper
NM_014241.4
p.E57*
c.169G>T
1 paper
NM_014241.4
p.E54K
c.160G>A
2 papers
NM_014241.4
p.R59Q
c.176G>A
1 paper
NM_014241.4
p.E60K
c.178G>A
1 paper
NM_014241.4
p.G51D
c.152G>A
2 papers
NM_014241.4
p.E60A
c.179A>C
2 papers
NM_014241.4
p.N49I
c.146A>T
1 paper
NM_014241.4
p.N49T
c.146A>C
2 papers
NM_014241.4
p.E64Q
c.190G>C
9 papers
NM_014241.4
p.E64K
c.190G>A
1 paper
NM_014241.4
p.G47D
c.140G>A
1 paper
NM_014241.4
p.P34_G47delFs
c.102_139del38
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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."