Varaico: Literature-Extracted Genetic Variants

Gene:DDX52
Variant:p.E101G

DDX52

41 papers

Pfam Domains

DEADaa 189–363UCSCDEAD/DEAH box helicase
Helicase_Caa 398–507UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DExD-box helicase 52

HGNC Alias Symbol

ROK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007010.5
p.E101G
c.302A>G
Surrounding Variants
1 paper
NM_007010.5
p.G103D
c.308G>A
2 papers
NM_007010.5
p.E96Splc
c.287-1G>T
1 paper
NM_007010.5
p.K120fs
c.358_359fs
1 paper
NM_007010.5
p.Q122L
c.365A>T
1 paper
NM_007010.5
p.K139_I140Splc
c.417+1G>A
1 paper
NM_007010.5
p.H150H
c.450C>T
1 paper
NM_007010.5
p.Q186_M187ins5
c.556_560ins15
1 paper
NM_007010.5
p.T189M
c.566C>T
1 paper
NM_007010.5
p.P197Q
c.590C>A
1 paper
NM_007010.5
p.H201R
c.602A>G
1 paper
NM_007010.5
p.R203G
c.607C>G
1 paper
NM_007010.5
p.E253K
c.757G>A
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