Varaico: Literature-Extracted Genetic Variants

Gene:DDX53

DDX53

119 papers

RefSeq Summary

This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA un...

Pfam Domains

KH_1aa 51–111UCSCKH domain
DEADaa 246–417UCSCDEAD/DEAH box helicase
Helicase_Caa 451–562UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 53

HGNC Alias Symbol

CT26

Papers
RefSeq ID
Protein change
DNA change
1–12 of 149 variants
3 papers
NM_182699.4
p.T409A
c.1225A>G
2 papers
NM_182699.4
p.W8*
c.23G>A
2 papers
NM_182699.4
p.W8*
c.24G>A
2 papers
NM_182699.4
p.G87W
c.259G>T
2 papers
NM_182699.4
p.A107S
c.319G>T
2 papers
NM_182699.4
p.R136I
c.407G>T
2 papers
NM_182699.4
p.S189_E190insFs
c.567_568ins7
2 papers
NM_182699.4
p.E190fs
c.568_569fs
2 papers
NM_182699.4
p.E212G
c.635A>G
2 papers
NM_182699.4
p.R214C
c.640C>T
2 papers
NM_182699.4
p.G271E
c.812G>A
2 papers
NM_182699.4
p.M278I
c.834G>A
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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."