Varaico: Literature-Extracted Genetic Variants

Gene:DDX20
Variant:p.P437L

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
2 papers
NM_007204.5
p.P437L
c.1310C>T
Surrounding Variants
1 paper
NM_007204.5
p.P435S
c.1303C>T
2 papers
NM_007204.5
p.M421del1
c.1261_1262delATG
1 paper
NM_007204.5
p.N420_M421del2
c.1258_1262del6
1 paper
NM_007204.5
p.R415Q
c.1244G>A
1 paper
NM_007204.5
p.A400V
c.1199C>T
1 paper
NM_007204.5
p.R399G
c.1195A>G
1 paper
NM_007204.5
p.R396W
c.1186C>T
1 paper
NM_007204.5
p.Y393*
c.1179C>A
1 paper
NM_007204.5
p.Y393*
c.1179C>G
1 paper
NM_007204.5
p.Y393N
c.1177T>A
1 paper
NM_007204.5
p.V381L
c.1141G>C
1 paper
NM_007204.5
p.V378L
c.1132G>C
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