Varaico: Literature-Extracted Genetic Variants

Gene:DDX43
Variant:p.C295W

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
1 paper
NM_018665.3
p.C295W
c.885T>G
Surrounding Variants
1 paper
NM_018665.3
p.R234L
c.701G>T
1 paper
NM_018665.3
p.R234*
c.700C>T
1 paper
NM_018665.3
p.S309Splc
c.927-107C>T
1 paper
NM_018665.3
p.E335E
c.1005A>G
1 paper
NM_018665.3
p.G343E
c.1028G>A
1 paper
NM_018665.3
p.G365fs
c.1093_1094fs
1 paper
NM_018665.3
p.I370T
c.1109T>C
1 paper
NM_018665.3
p.R217Splc
c.650+1G>A
1 paper
NM_018665.3
p.A204V
c.611C>T
1 paper
NM_018665.3
p.L393_V394Splc
c.1179+54C>A
1 paper
NM_018665.3
p.S202A
c.604T>G
1 paper
NM_018665.3
p.D396N
c.1186G>A
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