Varaico: Literature-Extracted Genetic Variants

Gene:DDX56

DDX56

49 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 31–207UCSCDEAD/DEAH box helicase
Helicase_Caa 243–380UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 56

HGNC Alias Symbol

NOH61

Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
3 papers
NM_019082.4
p.Y249C
c.746A>G
2 papers
NM_019082.4
p.L47F
c.139C>T
2 papers
NM_019082.4
p.R275H
c.824G>A
2 papers
NM_019082.4
p.V319I
c.955G>A
2 papers
NM_019082.4
p.R427H
c.1280G>A
1 paper
NM_019082.4
p.D24insFs
c.71_72insG
1 paper
NM_019082.4
p.W27R
c.79T>C
1 paper
NM_019082.4
p.W27R
c.79T>A
1 paper
NM_019082.4
p.W27C
c.81G>T
1 paper
NM_019082.4
p.W27C
c.81G>C
1 paper
NM_019082.4
p.I38I
c.114C>T
1 paper
NM_019082.4
p.R50G
c.148C>G
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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."