Varaico: Literature-Extracted Genetic Variants

Gene:DDX43
Variant:p.R574Q

DDX43

45 papers

RefSeq Summary

The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008].

Pfam Domains

KH_1aa 71–130UCSCKH domain
DEADaa 266–437UCSCDEAD/DEAH box helicase
Helicase_Caa 472–582UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 43

HGNC Alias Symbols

HAGE; DKFZp434H2114; CT13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018665.3
p.R574Q
c.1721G>A
Surrounding Variants
1 paper
NM_018665.3
p.G579*
c.1735G>T
1 paper
NM_018665.3
p.R566Q
c.1697G>A
1 paper
NM_018665.3
p.R566W
c.1696C>T
1 paper
NM_018665.3
p.R549I
c.1646G>T
1 paper
NM_018665.3
p.V494I
c.1480G>A
1 paper
NM_018665.3
p.F493L
c.1479C>A
1 paper
NM_018665.3
p.F493L
c.1479C>G
1 paper
NM_018665.3
p.F493L
c.1477T>C
1 paper
NM_018665.3
p.V467fs
c.1399_1400fs
1 paper
NM_018665.3
p.I466_V467delFs
c.1398_1399delTG
3 papers
NM_018665.3
p.K625E
c.1873A>G
3 papers
NM_018665.3
p.Q629R
c.1886A>G
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