Varaico: Literature-Extracted Genetic Variants

Gene:DDX43

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
1–12 of 44 variants
3 papers
NM_018665.3
p.G84D
c.251G>A
3 papers
NM_018665.3
p.K625E
c.1873A>G
3 papers
NM_018665.3
p.Q629R
c.1886A>G
2 papers
NM_018665.3
p.A81G
c.242C>G
2 papers
NM_018665.3
p.D396A
c.1187A>C
2 papers
NM_018665.3
p.R574Q
c.1721G>A
1 paper
NM_018665.3
p.M1I
c.3G>A
1 paper
NM_018665.3
p.T12K
c.35C>A
1 paper
NM_018665.3
p.R18Q
c.53G>A
1 paper
NM_018665.3
p.R19fs
c.55_56fs
1 paper
NM_018665.3
p.P27P
c.81A>G
1 paper
NM_018665.3
p.R37L
c.110G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."