Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_182699.4
p.M1I
c.3G>C
1 paper
NM_182699.4
p.M1I
c.3G>T
1 paper
NM_182699.4
p.H3L
c.8A>T
1 paper
NM_182699.4
p.W4C
c.12G>C
1 paper
NM_182699.4
p.E7K
c.19G>A
1 paper
NM_182699.4
p.E7Q
c.19G>C
2 papers
NM_182699.4
p.W8*
c.23G>A
2 papers
NM_182699.4
p.W8*
c.24G>A
1 paper
NM_182699.4
p.E12Q
c.34G>C
1 paper
NM_182699.4
p.G19_R25del0
c.55_75del21
1 paper
NM_182699.4
p.A20D
c.59C>A
1 paper
NM_182699.4
p.R25W
c.73A>T
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