Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.K180del1

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.K180del1
c.538_540delTTT
Surrounding Variants
5 papers
NM_001256007.3
p.E173*
c.517G>T
1 paper
NM_001256007.3
p.T193R
c.578C>G
1 paper
NM_001256007.3
p.A165V
c.494C>T
1 paper
NM_001256007.3
p.I154V
c.460A>G
2 papers
NM_001256007.3
p.K151*
c.451A>T
3 papers
NM_001256007.3
p.N212fs
c.634_635fs
2 papers
NM_001256011.3
p.N112_S113delFs
c.334_337del4
NM_001256007.3
p.N212_S213delFs
c.634_637del4
1 paper
NM_001256007.3
p.K146_Q147insFs
c.438_439ins10
1 paper
NM_001256007.3
p.W144insFs
c.432dupG
1 paper
NM_001256007.3
p.R217P
c.650G>C
1 paper
NM_001256007.3
p.S140L
c.419C>T
5 papers
NM_001256007.3
p.S140*
c.419C>A
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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."