Varaico: Literature-Extracted Genetic Variants

Gene:DDX47
Variant:p.E413K

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016355.4
p.E413K
c.1237G>A
Surrounding Variants
1 paper
NM_016355.4
p.A428P
c.1282G>C
1 paper
NM_016355.4
p.A437S
c.1309G>T
1 paper
NM_016355.4
p.R411Q
c.1232G>A
1 paper
NM_016355.4
p.A404T
c.1210G>A
1 paper
NM_016355.4
p.R377S
c.1129C>A
2 papers
NM_016355.4
p.R377C
c.1129C>T
1 paper
NM_016355.4
p.R359H
c.1076G>A
1 paper
NM_016355.4
p.A355T
c.1063G>A
1 paper
NM_016355.4
p.D339N
c.1015G>A
1 paper
NM_016355.4
p.A290T
c.868G>A
1 paper
NM_016355.4
p.R284G
c.850C>G
1 paper
NM_016355.4
p.R284*
c.850C>T
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