Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.Q223*

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.Q223*
c.667C>T
Surrounding Variants
1 paper
NM_001256007.3
p.R217P
c.650G>C
2 papers
NM_001256011.3
p.N112_S113delFs
c.334_337del4
NM_001256007.3
p.N212_S213delFs
c.634_637del4
3 papers
NM_001256007.3
p.N212fs
c.634_635fs
1 paper
NM_001256007.3
p.T193R
c.578C>G
1 paper
NM_001256007.3
p.A255delFs
c.763delC
1 paper
NM_001256007.3
p.T265fs
c.793_794fs
1 paper
NM_001256007.3
p.K180del1
c.538_540delTTT
1 paper
NM_001256007.3
p.T265M
c.794C>T
2 papers
NM_001256007.3
p.T265insFs
c.793dupA
1 paper
NM_001256007.3
p.T270A
c.808A>G
1 paper
NM_001256007.3
p.S271fs
c.811_812fs
1 paper
NM_001256007.3
p.S271insFs
c.811_812insA
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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."