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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPB

NPB

22 papers

RefSeq Summary

This gene encodes a member of the neuropeptide B/W family of proteins and preproprotein that is proteolytically processed to generate multiple protein products. The encoded products include neuropepti...

Pfam Domains

NPBWaa 6–124UCSCNeuropeptides B and W

Gene Aliases

HGNC Name

neuropeptide B

HGNC Alias Symbols

PPL7; PPNPB

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr17:81902284 C>T

NM_148896.5

p.R3W

c.7C>T

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=3, hom=0)4 overlapping SVs

1 paper

chr17:81902289 C>A

NM_148896.5

p.S4S

c.12C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a4 overlapping SVs

1 paper

chr17:81902290 G>C

NM_148896.5

p.A5P

c.13G>C

exact variant not in gnomAD4 overlapping SVs

1 paper

chr17:81902292 G>C

NM_148896.5

p.A5A

c.15G>C

NPBW

exact variant not in gnomAD4 overlapping SVs

1 paper

chr17:81902432 A>T

NM_148896.5

p.Y52F

c.155A>T

NPBW

exact variant not in gnomAD4 overlapping SVs

1 paper

chr17:81902510 C>G

NM_148896.5

p.P78R

c.233C>G

NPBW

Exome: n/aGenome: 0.0% (AC=1, hom=0)4 overlapping SVs

1 paper

chr17:81902513 G>A

NM_148896.5

p.R79K

c.236G>A

NPBW

Exome: 0.0% (AC=430, hom=5)Genome: 0.4% (AC=639, hom=5)4 overlapping SVs

1 paper

chr17:81902527 G>A

NM_148896.5

p.L83_A84Splc

c.249+1G>A

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)4 overlapping SVs

1 paper

chr17:81902662 G>C

NM_148896.5

p.E98Q

c.292G>C

NPBW

exact variant not in gnomAD4 overlapping SVs

1 paper

chr17:81902698 A>G

NM_148896.5

p.K110E

c.328A>G

NPBW

exact variant not in gnomAD4 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."