Varaico: Literature-Extracted Genetic Variants

Gene:DDX52
Variant:p.Q362*

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.Q362*
c.1084C>T
Surrounding Variants
1 paper
NM_007010.5
p.K365R
c.1094A>G
1 paper
NM_007010.5
p.A336insFs
c.1007_1008insC
1 paper
NM_007010.5
p.F324S
c.971T>C
1 paper
NM_007010.5
p.P304T
c.910C>A
1 paper
NM_007010.5
p.D303N
c.907G>A
1 paper
NM_007010.5
p.R295*
c.883C>T
2 papers
NM_007010.5
p.V403M
c.1207G>A
1 paper
NM_007010.5
p.V403A
c.1208T>C
1 paper
NM_007010.5
p.F278S
c.833T>C
1 paper
NM_007010.5
p.R264S
c.792A>T
1 paper
NM_007010.5
p.R264S
c.792A>C
1 paper
NM_007010.5
p.E253K
c.757G>A
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