Varaico: Literature-Extracted Genetic Variants

Gene:HACD1
Variant:p.R96C

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.R96C
c.286C>T
Surrounding Variants
1 paper
NM_014241.4
p.R96P
c.287G>C
1 paper
NM_014241.4
p.Y98F
c.293A>T
1 paper
NM_014241.4
p.K101I
c.302A>T
1 paper
NM_014241.4
p.L90L
c.270A>T
1 paper
NM_014241.4
p.L90Q
c.269T>A
1 paper
NM_014241.4
p.W87*
c.261G>A
1 paper
NM_014241.4
p.W87*
c.260G>A
1 paper
NM_014241.4
p.G86Splc
c.258-1G>T
2 papers
NM_014241.4
p.S110S
c.330T>C
1 paper
NM_014241.4
p.K116Q
c.346A>C
1 paper
NM_014241.4
p.K116N
c.348A>T
1 paper
NM_014241.4
p.K116N
c.348A>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."