Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.K92N

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.K92N
c.276A>C
Surrounding Variants
1 paper
NM_182699.4
p.K92N
c.276A>T
1 paper
NM_182699.4
p.A91V
c.272C>T
1 paper
NM_182699.4
p.R94K
c.281G>A
1 paper
NM_182699.4
p.N98I
c.293A>T
2 papers
NM_182699.4
p.G87W
c.259G>T
1 paper
NM_182699.4
p.E100V
c.299A>T
1 paper
NM_182699.4
p.K106Q
c.316A>C
2 papers
NM_182699.4
p.A107S
c.319G>T
1 paper
NM_182699.4
p.Q75L
c.224A>T
1 paper
NM_182699.4
p.D73H
c.217G>C
1 paper
NM_182699.4
p.S118N
c.353G>A
1 paper
NM_182699.4
p.D126N
c.376G>A
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