Varaico: Literature-Extracted Genetic Variants

Gene:DDX43
Variant:p.R19fs

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.R19fs
c.55_56fs
Surrounding Variants
1 paper
NM_018665.3
p.R18Q
c.53G>A
1 paper
NM_018665.3
p.T12K
c.35C>A
1 paper
NM_018665.3
p.P27P
c.81A>G
1 paper
NM_018665.3
p.M1I
c.3G>A
1 paper
NM_018665.3
p.R37L
c.110G>T
1 paper
NM_018665.3
p.G46D
c.137G>A
1 paper
NM_018665.3
p.G53A
c.158G>C
1 paper
NM_018665.3
p.A81S
c.241G>T
2 papers
NM_018665.3
p.A81G
c.242C>G
3 papers
NM_018665.3
p.G84D
c.251G>A
1 paper
NM_018665.3
p.R85C
c.253C>T
1 paper
NM_018665.3
p.R85H
c.254G>A
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