Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA5

PNPLA5

42 papers

RefSeq Summary

This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found f...

Pfam Domains

Patatinaa 12–180UCSCPatatin-like phospholipase
Patatinaa 12–180UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 5, triacylglycerol lipase

HGNC Alias Symbols

dJ388M5.4; GS2L

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
2 papers
NM_138814.4
p.L140F
c.418C>T
2 papers
NM_138814.4
p.S187L
c.560C>T
1 paper
NM_138814.4
p.L4L
c.10T>C
1 paper
NM_138814.4
p.G16S
c.46G>A
1 paper
NM_138814.4
p.H24delins
c.70_72delinsGTG
1 paper
NM_138814.4
p.G41G
c.123C>T
1 paper
NM_138814.4
p.D65Splc
c.193+82C>A
1 paper
NM_138814.4
p.D65N
c.193G>A
1 paper
NM_138814.4
p.P88R
c.263C>G
1 paper
NM_138814.4
p.Q99*
c.295C>T
1 paper
NM_138814.4
p.L111fs
c.331_332fs
1 paper
NM_138814.4
p.L111delFs
c.332delA
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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."