Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.M278I

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
2 papers
NM_182699.4
p.M278I
c.834G>A
Surrounding Variants
2 papers
NM_182699.4
p.M278I
c.834G>C
2 papers
NM_182699.4
p.M278I
c.834G>T
1 paper
NM_182699.4
p.G280A
c.839G>C
2 papers
NM_182699.4
p.I282F
c.844A>T
1 paper
NM_182699.4
p.S275C
c.824C>G
1 paper
NM_182699.4
p.L284P
c.851T>C
2 papers
NM_182699.4
p.G271E
c.812G>A
2 papers
NM_182699.4
p.R291G
c.871A>G
1 paper
NM_182699.4
p.I263I
c.789A>C
1 paper
NM_182699.4
p.L262V
c.784C>G
1 paper
NM_182699.4
p.G298R
c.892G>A
1 paper
NM_182699.4
p.G298R
c.892G>C
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