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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NAPEPLD

Variant:p.L378V

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:103103479 A>C

NM_001122838.3

p.L378V

c.1132T>G

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=29, hom=0)93 overlapping SVs

Surrounding Variants

1 paper

chr7:103103472 T>C

NM_001122838.3

p.H380R

c.1139A>G

Exome: 0.0% (AC=7, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr7:103103467 C>T

NM_001122838.3

p.E382K

c.1144G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)93 overlapping SVs

2 papers

chr7:103103446 C>T

NM_001122838.3

p.D389N

c.1165G>A

Exome: 98.7% (AC=1383099, hom=685983)Genome: 87.5% (AC=133198, hom=61040)93 overlapping SVs

1 paper

chr7:103103541 G>C

NM_001122838.3

p.P357R

c.1070C>G

exact variant not in gnomAD93 overlapping SVs

1 paper

chr7:103103554 G>T

NM_001122838.3

p.H353N

c.1057C>A

exact variant not in gnomAD93 overlapping SVs

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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."