Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.E212G

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.E212G
c.635A>G
Surrounding Variants
2 papers
NM_182699.4
p.R214C
c.640C>T
1 paper
NM_182699.4
p.A226T
c.676G>A
1 paper
NM_182699.4
p.K198N
c.594G>C
1 paper
NM_182699.4
p.K198N
c.594G>T
1 paper
NM_182699.4
p.A226V
c.677C>T
2 papers
NM_182699.4
p.E190fs
c.568_569fs
1 paper
NM_182699.4
p.S189_E190insFs
c.567_568ins5
2 papers
NM_182699.4
p.S189_E190insFs
c.567_568ins7
1 paper
NM_182699.4
p.G241R
c.721G>A
1 paper
NM_182699.4
p.G241R
c.721G>C
1 paper
NM_182699.4
p.P245Q
c.734C>A
1 paper
NM_182699.4
p.T246M
c.737C>T
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