Varaico: Literature-Extracted Genetic Variants

Gene:NAPEPLD
Variant:p.C224S

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.C224S
c.670T>A
Surrounding Variants
1 paper
NM_001122838.3
p.C224S
c.671G>C
1 paper
NM_001122838.3
p.C222S
c.665G>C
1 paper
NM_001122838.3
p.C222S
c.664T>A
1 paper
NM_001122838.3
p.D217Y
c.649G>T
1 paper
NM_001122838.3
p.C237S
c.709T>A
1 paper
NM_001122838.3
p.C237S
c.710G>C
1 paper
NM_001122838.3
p.L207F
c.621G>T
1 paper
NM_001122838.3
p.L207F
c.621G>C
1 paper
NM_001122838.3
p.V196L
c.586G>C
1 paper
NM_001122838.3
p.H253N
c.757C>A
1 paper
NM_001122838.3
p.C255S
c.763T>A
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."