Varaico: Literature-Extracted Genetic Variants

Gene:DDX42
Variant:p.A127V

DDX42

56 papers

RefSeq Summary

This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving a...

Pfam Domains

DEADaa 277–448UCSCDEAD/DEAH box helicase
Helicase_Caa 483–593UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 42

HGNC Alias Symbols

RNAHP; RHELP; SF3b125; SF3B8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203499.3
p.A127V
c.380C>T
Surrounding Variants
1 paper
NM_203499.3
p.N143I
c.428A>T
1 paper
NM_203499.3
p.R148*
c.442C>T
1 paper
NM_203499.3
p.E178K
c.532G>A
1 paper
NM_203499.3
p.I196insFs
c.586_587insA
1 paper
NM_203499.3
p.I196fs
c.586_587fs
1 paper
NM_203499.3
p.E124_D125Splc
c.372+2C>A
1 paper
NM_203499.3
p.N85K
c.255C>A
1 paper
NM_203499.3
p.N85K
c.255C>G
1 paper
NM_203499.3
p.E214delFs
c.641_642delAA
1 paper
NM_203499.3
p.N226S
c.677A>G
1 paper
NM_203499.3
p.A246V
c.737C>T
1 paper
NM_203499.3
p.H257N
c.769C>A
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