Varaico: Literature-Extracted Genetic Variants

Gene:NAPEPLD
Variant:p.R314Splc

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.R314Splc
c.942-1845G>A
Surrounding Variants
1 paper
NM_001122838.3
p.H321N
c.961C>A
1 paper
NM_001122838.3
p.H331N
c.991C>A
2 papers
NM_001122838.3
p.M340V
c.1018A>G
1 paper
NM_001122838.3
p.H343N
c.1027C>A
3 papers
NM_001122838.3
p.G345_T346insC
c.1033_1037ins3
1 paper
NM_001122838.3
p.F347S
c.1040T>C
1 paper
NM_001122838.3
p.C288S
c.863G>C
1 paper
NM_001122838.3
p.C288S
c.862T>A
1 paper
NM_001122838.3
p.D284N
c.850G>A
1 paper
NM_001122838.3
p.S271F
c.812C>T
1 paper
NM_001122838.3
p.D261G
c.782A>G
1 paper
NM_001122838.3
p.C255F
c.764G>T
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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."