Varaico: Literature-Extracted Genetic Variants

Gene:DDX42
Variant:p.N524Y

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
4 papers
NM_203499.3
p.N524Y
c.1570A>T
Surrounding Variants
1 paper
NM_203499.3
p.A515V
c.1544C>T
1 paper
NM_203499.3
p.K484Q
c.1450A>C
1 paper
NM_203499.3
p.E469K
c.1405G>A
1 paper
NM_203499.3
p.R442W
c.1324C>T
2 papers
NM_203499.3
p.P565L
c.1694C>T
1 paper
NM_203499.3
p.A576V
c.1727C>T
1 paper
NM_203499.3
p.T581A
c.1741A>G
1 paper
NM_203499.3
p.T583T
c.1749G>A
1 paper
NM_203499.3
p.I586_G587insA
c.1756_1760ins3
1 paper
NM_203499.3
p.R588H
c.1763G>A
1 paper
NM_203499.3
p.T589R
c.1766C>G
1 paper
NM_203499.3
p.E594K
c.1780G>A
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