Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.W527*

PNPLA8

69 papers

RefSeq Summary

This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phosph...

Pfam Domains

Patatinaa 445–640UCSCPatatin-like phospholipase

Gene Aliases

HGNC Name

patatin like domain 8, phospholipase A2

HGNC Alias Symbols

IPLA2G; IPLA2-2; iPLA2gamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001256007.3
p.W527*
c.1580G>A
Surrounding Variants
1 paper
NM_001256007.3
p.W527*
c.1581G>A
1 paper
NM_001256007.3
p.D533V
c.1598A>T
3 papers
NM_001256007.3
p.V520D
c.1559T>A
1 paper
NM_001256007.3
p.L505_Y506delFs
c.1515_1516delAA
1 paper
NM_001256007.3
p.Y506fs
c.1516_1517fs
1 paper
NM_001256007.3
p.H496R
c.1487A>G
1 paper
NM_001256007.3
p.I479S
c.1436T>G
1 paper
NM_001256007.3
p.G546fs
c.1636_1637fs
2 papers
NM_001256007.3
p.G546delFs
c.1637delC
1 paper
NM_001256007.3
p.M550delFs
c.1648delT
2 papers
NM_001256007.3
p.M550I
c.1650G>T
2 papers
NM_001256007.3
p.M550I
c.1650G>C
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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."