Varaico: Literature-Extracted Genetic Variants

Gene:PPT2
Variant:p.M1I

PPT2

37 papers

RefSeq Summary

This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from...

Pfam Domains

Palm_thioestaa 38–283UCSCPalmitoyl protein thioesterase

Gene Aliases

HGNC Name

palmitoyl-protein thioesterase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005155.7
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_005155.7
p.M1I
c.3G>C
1 paper
NM_005155.7
p.M1I
c.3G>T
5 papers
NM_005155.7
p.C5W
c.15C>G
1 paper
NM_005155.7
p.F20L
c.58T>C
1 paper
NM_005155.7
p.F20L
c.60C>A
1 paper
NM_005155.7
p.F20L
c.60C>G
1 paper
NM_005155.7
p.L23P
c.68T>C
6 papers
NM_005155.7
p.A34E
c.101C>A
1 paper
NM_005155.7
p.H43R
c.128A>G
1 paper
NM_005155.7
p.S111A
c.331T>G
1 paper
NM_005155.7
p.S134F
c.401C>T
1 paper
NM_005155.7
p.M140I
c.420G>A
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