Varaico: Literature-Extracted Genetic Variants

Gene:DDX56
Variant:p.K244delFs

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
Selected Variant
1 paper
NM_019082.4
p.K244delFs
c.731_732delTT
Surrounding Variants
1 paper
NM_019082.4
p.D243H
c.727G>C
3 papers
NM_019082.4
p.Y249C
c.746A>G
1 paper
NM_019082.4
p.R258W
c.772C>T
1 paper
NM_019082.4
p.Q232K
c.694C>A
1 paper
NM_019082.4
p.R275C
c.823C>T
2 papers
NM_019082.4
p.R275H
c.824G>A
1 paper
NM_019082.4
p.L210Q
c.629T>A
1 paper
NM_019082.4
p.G307C
c.919G>T
1 paper
NM_019082.4
p.T315A
c.943A>G
2 papers
NM_019082.4
p.V319I
c.955G>A
1 paper
NM_019082.4
p.R328C
c.982C>T
1 paper
NM_019082.4
p.R329W
c.985C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."