Varaico: Literature-Extracted Genetic Variants

Gene:NAPEPLD
Variant:p.E116fs

NAPEPLD

35 papers

RefSeq Summary

NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine...

Pfam Domains

Lactamase_B_2aa 143–344UCSCBeta-lactamase superfamily domain

Gene Aliases

HGNC Name

N-acyl phosphatidylethanolamine phospholipase D

HGNC Alias Symbols

FMP30; C7orf18; NAPE-PLD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122838.3
p.E116fs
c.346_347fs
Surrounding Variants
1 paper
NM_001122838.3
p.E116fs
c.346_347fs
3 papers
NM_001122838.3
p.P115_E116insFs
c.345_346insC
1 paper
NM_001122838.3
p.D147N
c.439G>A
1 paper
NM_001122838.3
p.P148A
c.442C>G
3 papers
NM_001122838.3
p.S152A
c.454T>G
2 papers
NM_001122838.3
p.R153C
c.457C>T
1 paper
NM_001122838.3
p.P156L
c.467C>T
1 paper
NM_001122838.3
p.Y159S
c.476A>C
1 paper
NM_001122838.3
p.R166C
c.496C>T
1 paper
NM_001122838.3
p.P169Q
c.506C>A
1 paper
NM_001122838.3
p.C170S
c.508T>A
1 paper
NM_001122838.3
p.C170S
c.509G>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."