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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DDX47

DDX47

45 papers

RefSeq Summary

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number o...

Pfam Domains

DEADaa 48–215UCSCDEAD/DEAH box helicase

Helicase_Caa 249–358UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 47

HGNC Alias Symbols

DKFZp564O176; FLJ30012; HQ0256

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 42 variants

2 papers

chr12:12814193 C>T

NM_016355.4

p.I50I

c.150C>T

DEAD

Exome: 29.8% (AC=434842, hom=68010)Genome: 30.1% (AC=45737, hom=7196)23 overlapping SVs

2 papers

chr12:12827268 C>T

NM_016355.4

p.R377C

c.1129C>T

Exome: 0.0% (AC=205, hom=0)Genome: 0.0% (AC=20, hom=0)24 overlapping SVs

1 paper

chr12:12813368 A>ACT

NM_016355.4

p.M1insFs

c.1_2insCT

exact variant not in gnomAD23 overlapping SVs

1 paper

chr12:12813387 A>T

NM_016355.4

p.H7L

c.20A>T

exact variant not in gnomAD23 overlapping SVs

1 paper

chr12:12813389 G>T

NM_016355.4

p.D8Y

c.22G>T

Exome: 0.1% (AC=968, hom=9)Genome: 0.0% (AC=42, hom=0)23 overlapping SVs

1 paper

chr12:12813413 C>G

NM_016355.4

p.P16A

c.46C>G

Exome: 0.0% (AC=4, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr12:12821210 C>T

NM_016355.4

p.R62C

c.184C>T

DEAD

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)23 overlapping SVs

1 paper

chr12:12821211 G>C

NM_016355.4

p.R62P

c.185G>C

DEAD

Exome: 0.0% (AC=2, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr12:12821255 G>A

NM_016355.4

p.A77T

c.229G>A

DEAD

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=4, hom=0)23 overlapping SVs

1 paper

chr12:12821274 T>C

NM_016355.4

p.L83P

c.248T>C

DEAD

exact variant not in gnomAD23 overlapping SVs

1 paper

chr12:12821294 C>T

NM_016355.4

p.P90S

c.268C>T

DEAD

Exome: 0.0% (AC=3, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr12:12821336 C>A

NM_016355.4

p.L104M

c.310C>A

DEAD

Exome: 0.0% (AC=2, hom=0)Genome: n/a23 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."