Varaico: Literature-Extracted Genetic Variants

Gene:DDX56
Variant:p.T315A

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.T315A
c.943A>G
Surrounding Variants
2 papers
NM_019082.4
p.V319I
c.955G>A
1 paper
NM_019082.4
p.G307C
c.919G>T
1 paper
NM_019082.4
p.R328C
c.982C>T
1 paper
NM_019082.4
p.R329W
c.985C>T
1 paper
NM_019082.4
p.A343T
c.1027G>A
1 paper
NM_019082.4
p.R347Q
c.1040G>A
2 papers
NM_019082.4
p.R275H
c.824G>A
1 paper
NM_019082.4
p.R275C
c.823C>T
1 paper
NM_019082.4
p.R258W
c.772C>T
1 paper
NM_019082.4
p.R372*
c.1114C>T
3 papers
NM_019082.4
p.Y249C
c.746A>G
1 paper
NM_019082.4
p.K244delFs
c.731_732delTT
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