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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPT1

PPT1

413 papers

RefSeq Summary

The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl grou...

Pfam Domains

Palm_thioestaa 34–243UCSCPalmitoyl protein thioesterase

Gene Aliases

HGNC Name

palmitoyl-protein thioesterase 1

HGNC Alias Symbols

CLN1; INCL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 280 variants

92 papers

chr1:40089495 G>A

NM_000310.4

p.R151*

c.451C>T

Palm_thioest

Exome: 0.0% (AC=678, hom=0)Genome: 0.0% (AC=54, hom=0)164 overlapping SVs

61 papers

chr1:40091398 T>A

NM_000310.4

p.R122W

c.364A>T

Palm_thioest

Exome: 0.0% (AC=436, hom=0)Genome: 0.1% (AC=91, hom=0)164 overlapping SVs

35 papers

chr1:40092409 T>G

NM_000310.4

p.T75P

c.223A>C

Palm_thioest

Exome: 0.0% (AC=93, hom=0)Genome: 0.0% (AC=8, hom=0)164 overlapping SVs

26 papers

chr1:40080483 C>T

NM_000310.4

p.V181M

c.541G>A

Palm_thioest

Exome: 0.0% (AC=91, hom=0)Genome: 0.0% (AC=2, hom=0)163 overlapping SVs

17 papers

chr1:40097210 A>T

NM_000310.4

p.L10*

c.29T>A

Exome: 0.0% (AC=138, hom=0)Genome: 0.0% (AC=6, hom=0)163 overlapping SVs

15 papers

chr1:40089417 G>C

NM_000310.4

p.Q177E

c.529C>G

Palm_thioest

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=4, hom=0)164 overlapping SVs

14 papers

chr1:40092171 T>C

NM_000310.4

p.D79G

c.236A>G

Palm_thioest

Exome: 0.0% (AC=4, hom=0)Genome: n/a164 overlapping SVs

14 papers

chr1:40080474 C>T

NM_000310.4

p.E184K

c.550G>A

Palm_thioest

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)163 overlapping SVs

13 papers

chr1:40089456 G>A

NM_000310.4

p.R164*

c.490C>T

Palm_thioest

Exome: 0.0% (AC=12, hom=0)Genome: n/a164 overlapping SVs

13 papers

chr1:40078621 A>G

NM_000310.4

p.L222P

c.665T>C

Palm_thioest

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)163 overlapping SVs

12 papers

chr1:40092462 A>AT

NM_000310.4

p.M57insFs

c.169dupA

Palm_thioest

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=2, hom=0)164 overlapping SVs

12 papers

chr1:40076891 C>A

NM_000310.4

p.G250V

c.749G>T

Palm_thioest

exact variant not in gnomAD164 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."