Varaico: Literature-Extracted Genetic Variants

Gene:DDX52
Variant:p.K554E

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.K554E
c.1660A>G
Surrounding Variants
1 paper
NM_007010.5
p.F545I
c.1633T>A
1 paper
NM_007010.5
p.Y541F
c.1622A>T
1 paper
NM_007010.5
p.P537S
c.1609C>T
1 paper
NM_007010.5
p.C536W
c.1608T>G
1 paper
NM_007010.5
p.C536R
c.1606T>C
1 paper
NM_007010.5
p.I463T
c.1388T>C
1 paper
NM_007010.5
p.R459I
c.1376G>T
1 paper
NM_007010.5
p.R459T
c.1376G>C
1 paper
NM_007010.5
p.R459K
c.1376G>A
1 paper
NM_007010.5
p.L428L
c.1284T>G
1 paper
NM_007010.5
p.K426E
c.1276A>G
1 paper
NM_007010.5
p.V403A
c.1208T>C
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