Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.Q91P

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.Q91P
c.272A>C
Surrounding Variants
2 papers
NM_000310.4
p.T94P
c.280A>C
1 paper
NM_000310.4
p.T94I
c.281C>T
1 paper
NM_000310.4
p.V95V
c.285G>C
5 papers
NM_000310.4
p.F85del1
c.253_254delGAA
2 papers
NM_000310.4
p.C96Y
c.287G>A
1 paper
NM_000310.4
p.Q91_C96delins
c.271_287delinsTT
1 paper
NM_000310.4
p.Q97fs
c.289_290fs
1 paper
NM_000310.4
p.Q97delFs
c.289_290delTG
1 paper
NM_000310.4
p.A98T
c.292G>A
1 paper
NM_000310.4
p.V80L
c.238G>T
1 paper
NM_000310.4
p.V80L
c.238G>C
1 paper
NM_000310.4
p.V80M
c.238G>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."