Varaico: Literature-Extracted Genetic Variants

Gene:HACD1
Variant:p.Y250F

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.Y250F
c.749A>T
Surrounding Variants
1 paper
NM_014241.4
p.Y250*
c.750T>A
1 paper
NM_014241.4
p.F251S
c.752T>C
1 paper
NM_014241.4
p.Y249_F251del0
c.746_751del6
1 paper
NM_014241.4
p.Y248Y
c.744C>T
6 papers
NM_014241.4
p.Y248*
c.744C>G
7 papers
NM_014241.4
p.Y248*
c.744C>A
1 paper
NM_014241.4
p.Y242H
c.724T>C
1 paper
NM_014241.4
p.N240_K241insFs
c.720_721insG
1 paper
NM_014241.4
p.L238L
c.714T>C
1 paper
NM_014241.4
p.I236V
c.706A>G
5 papers
NM_014241.4
p.H227Y
c.679C>T
1 paper
NM_014241.4
p.T220delFs
c.658_659delGT
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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."