Varaico: Literature-Extracted Genetic Variants

Gene:DDX4
Variant:p.R630H

DDX4

70 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 312–491UCSCDEAD/DEAH box helicase
DEADaa 312–491UCSCDEAD/DEAH box helicase
Helicase_Caa 526–635UCSCHelicase conserved C-terminal domain
Helicase_Caa 526–635UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 4

HGNC Alias Symbol

VASA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_024415.3
p.R630H
c.1889G>A
Surrounding Variants
1 paper
NM_024415.3
p.R630S
c.1888C>A
1 paper
NM_024415.3
p.G635W
c.1903G>T
1 paper
NM_024415.3
p.S642F
c.1925C>T
1 paper
NM_024415.3
p.F643fs
c.1927_1928fs
1 paper
NM_024415.3
p.R587C
c.1759C>T
1 paper
NM_024415.3
p.D585H
c.1753G>C
1 paper
NM_024415.3
p.T678_P681del4
c.2032_2042del12
1 paper
NM_024415.3
p.G700D
c.2099G>A
1 paper
NM_024415.3
p.S702C
c.2104A>T
1 paper
NM_024415.3
p.S702N
c.2105G>A
1 paper
NM_024415.3
p.D720H
c.2158G>C
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