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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGBD1

PGBD1

60 papers

RefSeq Summary

The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes ge...

Pfam Domains

SCANaa 40–129UCSCSCAN domain

DDE_Tnp_1_7aa 418–775UCSCTransposase IS4

Gene Aliases

HGNC Name

piggyBac transposable element derived 1

HGNC Alias Symbols

HUCEP-4; dJ874C20.4; SCAND4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 58 variants

7 papers

chr6:28301047 A>G

NM_032507.4

p.N398S

c.1193A>G

Exome: 8.7% (AC=127602, hom=6948)Genome: 5.9% (AC=8914, hom=350)39 overlapping SVs

4 papers

chr6:28301886 A>G

NM_032507.4

p.I678V

c.2032A>G

DDE_Tnp_1_7

Exome: 35.5% (AC=519135, hom=102095)Genome: 48.7% (AC=74048, hom=22740)39 overlapping SVs

3 papers

chr6:28296904 G>A

NM_032507.4

p.G244E

c.731G>A

Exome: 6.1% (AC=89633, hom=4823)Genome: 8.5% (AC=12885, hom=774)39 overlapping SVs

3 papers

chr6:28296915 C>G

NM_032507.4

p.Q248E

c.742C>G

Exome: 14.2% (AC=207892, hom=18019)Genome: 20.9% (AC=31838, hom=4544)39 overlapping SVs

3 papers

chr6:28296940 C>T

NM_032507.4

p.P256L

c.767C>T

Exome: 3.0% (AC=43676, hom=1161)Genome: 4.0% (AC=6021, hom=147)39 overlapping SVs

3 papers

chr6:28302270 C>G

NM_032507.4

p.H806D

c.2416C>G

Exome: 14.2% (AC=207143, hom=17962)Genome: 20.9% (AC=31809, hom=4538)39 overlapping SVs

2 papers

chr6:28302018 C>A

NM_032507.4

p.Q722K

c.2164C>A

DDE_Tnp_1_7

exact variant not in gnomAD39 overlapping SVs

1 paper

chr6:28283939 T>A

NM_032507.4

p.I42I

c.126T>A

SCAN

Exome: 0.9% (AC=13860, hom=446)Genome: 3.5% (AC=5336, hom=231)40 overlapping SVs

1 paper

chr6:28283950 G>A

NM_032507.4

p.R46H

c.137G>A

SCAN

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)40 overlapping SVs

1 paper

chr6:28284009 C>T

NM_032507.4

p.R66*

c.196C>T

SCAN

Exome: 0.1% (AC=1001, hom=1)Genome: 0.0% (AC=62, hom=0)40 overlapping SVs

1 paper

chr6:28284028 G>A

NM_032507.4

p.W72*

c.215G>A

SCAN

Exome: 0.0% (AC=1, hom=0)Genome: n/a40 overlapping SVs

1 paper

chr6:28284029 G>A

NM_032507.4

p.W72*

c.216G>A

SCAN

exact variant not in gnomAD40 overlapping SVs

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