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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HACD1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 133 variants

9 papers

chr10:17617150 C>T

NM_014241.4

p.E64K

c.190G>A

Exome: 90.7% (AC=1228239, hom=557925)Genome: 91.4% (AC=139052, hom=63688)17 overlapping SVs

7 papers

chr10:17617132 C>A

NM_014241.4

p.V70F

c.208G>T

Exome: 100.0% (AC=1353419, hom=676707)Genome: 100.0% (AC=152123, hom=76061)17 overlapping SVs

7 papers

chr10:17594245 G>T

NM_014241.4

p.Y248*

c.744C>A

PTPLA

exact variant not in gnomAD17 overlapping SVs

6 papers

chr10:17594245 G>C

NM_014241.4

p.Y248*

c.744C>G

PTPLA

exact variant not in gnomAD17 overlapping SVs

5 papers

chr10:17594310 G>A

NM_014241.4

p.H227Y

c.679C>T

PTPLA

Exome: 26.1% (AC=377349, hom=52053)Genome: 25.2% (AC=38230, hom=5091)17 overlapping SVs

4 papers

chr10:17617339 T>C

NM_014241.4

p.M1V

c.1A>G

Exome: 0.1% (AC=650, hom=9)Genome: 0.0% (AC=73, hom=0)17 overlapping SVs

4 papers

chr10:17617328 C>T

NM_014241.4

p.L4L

c.12G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a17 overlapping SVs

3 papers

chr10:17617338 A>G

NM_014241.4

p.M1T

c.2T>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)17 overlapping SVs

3 papers

chr10:17617328 C>G

NM_014241.4

p.L4L

c.12G>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a17 overlapping SVs

3 papers

chr10:17617303 C>A

NM_014241.4

p.G13C

c.37G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a17 overlapping SVs

3 papers

chr10:17617302 C>T

NM_014241.4

p.G13D

c.38G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a17 overlapping SVs

3 papers

chr10:17604019 G>A

NM_014241.4

p.R96C

c.286C>T

Exome: 0.0% (AC=66, hom=0)Genome: 0.0% (AC=5, hom=0)16 overlapping SVs

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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."