Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.K174R

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
2 papers
NM_000310.4
p.K174R
c.521A>G
Surrounding Variants
1 paper
NM_000310.4
p.V175insFs
c.524_525ins8
1 paper
NM_000310.4
p.V176fs
c.526_527fs
15 papers
NM_000310.4
p.Q177E
c.529C>G
1 paper
NM_000310.4
p.V176_Q177insFs
c.528_529ins4
1 paper
NM_000310.4
p.Q177insFs
c.529_530ins4
1 paper
NM_000310.4
p.Q177_E178insFs
c.531_532ins4
2 papers
NM_000310.4
p.E178fs
c.532_533fs
1 paper
NM_000310.4
p.E178V
c.533A>T
2 papers
NM_000310.4
p.E178delFs
c.532delC
1 paper
NM_000310.4
p.A169delFs
c.507delA
1 paper
NM_000310.4
p.R179C
c.535C>T
3 papers
NM_000310.4
p.R179Splc
c.536+1G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."