Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.Q573K

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
Selected Variant
1 paper
NM_182699.4
p.Q573K
c.1717C>A
Surrounding Variants
1 paper
NM_182699.4
p.D575N
c.1723G>A
1 paper
NM_182699.4
p.D575G
c.1724A>G
1 paper
NM_182699.4
p.S567_V568ins5
c.1699_1703ins15
2 papers
NM_182699.4
p.S567_V568ins7
c.1699_1703ins21
2 papers
NM_182699.4
p.A579V
c.1736C>T
1 paper
NM_182699.4
p.I558V
c.1672A>G
2 papers
NM_182699.4
p.R588K
c.1763G>A
2 papers
NM_182699.4
p.Q591del1
c.1771_1773delCAG
1 paper
NM_182699.4
p.R554G
c.1660A>G
1 paper
NM_182699.4
p.R546R
c.1638G>A
1 paper
NM_182699.4
p.Y540H
c.1618T>C
1 paper
NM_182699.4
p.D535V
c.1604A>T
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