Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.R179C

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000310.4
p.R179C
c.535C>T
Surrounding Variants
3 papers
NM_000310.4
p.R179Splc
c.537-1G>C
3 papers
NM_000310.4
p.R179Splc
c.537-1G>A
1 paper
NM_000310.4
p.L180fs
c.538_539fs
2 papers
NM_000310.4
p.L180insFs
c.538dupC
8 papers
NM_000310.4
p.V181L
c.541G>T
8 papers
NM_000310.4
p.V181L
c.541G>C
26 papers
NM_000310.4
p.V181M
c.541G>A
1 paper
NM_000310.4
p.A183T
c.547G>A
14 papers
NM_000310.4
p.E184K
c.550G>A
1 paper
NM_000310.4
p.E184delFs
c.552delT
1 paper
NM_000310.4
p.Y185F
c.554A>T
3 papers
NM_000310.4
p.W186*
c.557G>A
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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."