Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA5
Variant:p.S187L

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
Selected Variant
2 papers
NM_138814.4
p.S187L
c.560C>T
Surrounding Variants
1 paper
NM_138814.4
p.G169R
c.505G>C
1 paper
NM_138814.4
p.G169R
c.505G>A
1 paper
NM_001177675.2
p.N94N
c.282C>T
1 paper
NM_138814.4
p.F161F
c.483C>T
1 paper
NM_138814.4
p.E160fs
c.478_479fs
1 paper
NM_138814.4
p.E160G
c.479A>G
1 paper
NM_138814.4
p.P159insFs
c.477dupC
1 paper
NM_138814.4
p.P159delFs
c.477delG
1 paper
NM_138814.4
p.P159fs
c.475_476fs
1 paper
NM_138814.4
p.Y149N
c.445T>A
2 papers
NM_138814.4
p.L140F
c.418C>T
1 paper
NM_138814.4
p.R127C
c.379C>T
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."