Varaico: Literature-Extracted Genetic Variants

Gene:NAPEPLD
Variant:p.C288S

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.C288S
c.862T>A
Surrounding Variants
1 paper
NM_001122838.3
p.C288S
c.863G>C
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
1 paper
NM_001122838.3
p.C255S
c.764G>C
1 paper
NM_001122838.3
p.C255S
c.763T>A
1 paper
NM_001122838.3
p.H253N
c.757C>A
1 paper
NM_001122838.3
p.C237S
c.710G>C
1 paper
NM_001122838.3
p.C237S
c.709T>A
1 paper
NM_001122838.3
p.C224S
c.671G>C
1 paper
NM_001122838.3
p.C224S
c.670T>A
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