Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.E692Splc

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
2 papers
NM_001256007.3
p.E692Splc
c.2075-2A>G
Surrounding Variants
1 paper
NM_001256007.3
p.I695V
c.2083A>G
1 paper
NM_001256007.3
p.E715K
c.2143G>A
1 paper
NM_001256007.3
p.R723Q
c.2168G>A
1 paper
NM_001256007.3
p.Q743*
c.2227C>T
1 paper
NM_001256007.3
p.A749E
c.2246C>A
4 papers
NM_001256007.3
p.T757fs
c.2269_2270fs
4 papers
NM_001256007.3
p.T757delFs
c.2269delT
6 papers
NM_001256007.3
p.L759fs
c.2275_2276fs
8 papers
NM_001256007.3
p.L759delFs
c.2275_2276delAG
1 paper
NM_001256007.3
p.M772K
c.2315T>A
1 paper
NM_001256007.3
p.L776H
c.2327T>A
1 paper
NM_001256007.3
p.E653K
c.1957G>A
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