Varaico: Literature-Extracted Genetic Variants

Gene:HACD1
Variant:p.R202S

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.R202S
c.606A>C
Surrounding Variants
1 paper
NM_014241.4
p.R202S
c.606A>T
1 paper
NM_014241.4
p.Y203F
c.608A>T
1 paper
NM_014241.4
p.Y210C
c.629A>G
1 paper
NM_014241.4
p.G216R
c.646G>C
1 paper
NM_014241.4
p.T220delFs
c.658_659delGT
5 papers
NM_014241.4
p.H227Y
c.679C>T
1 paper
NM_014241.4
p.I236V
c.706A>G
1 paper
NM_014241.4
p.L238L
c.714T>C
1 paper
NM_014241.4
p.N240_K241insFs
c.720_721insG
1 paper
NM_014241.4
p.Y242H
c.724T>C
1 paper
NM_014241.4
p.Y248Y
c.744C>T
6 papers
NM_014241.4
p.Y248*
c.744C>G
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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."