Varaico: Literature-Extracted Genetic Variants

Gene:DDX20
Variant:p.S442C

DDX20

113 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 86–253UCSCDEAD/DEAH box helicase
Helicase_Caa 295–404UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 20

HGNC Alias Symbols

DP103; GEMIN3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007204.5
p.S442C
c.1325C>G
Surrounding Variants
1 paper
NM_007204.5
p.G443V
c.1328G>T
1 paper
NM_007204.5
p.K456R
c.1367A>G
1 paper
NM_007204.5
p.K474delFs
c.1421delA
1 paper
NM_007204.5
p.K474fs
c.1420_1421fs
1 paper
NM_007204.5
p.E480_R481delFs
c.1440_1443del4
1 paper
NM_007204.5
p.S495F
c.1484C>T
1 paper
NM_007204.5
p.S500F
c.1499C>T
1 paper
NM_007204.5
p.V506I
c.1516G>A
1 paper
NM_007204.5
p.N510K
c.1530T>A
1 paper
NM_007204.5
p.N510K
c.1530T>G
1 paper
NM_007204.5
p.T531T
c.1593G>A
1 paper
NM_007204.5
p.L536V
c.1606C>G
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