Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.H315fs

DDX41

376 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 205–385UCSCDEAD/DEAH box helicase
Helicase_Caa 419–527UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 41

HGNC Alias Symbols

ABS; MGC8828

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_016222.4
p.H315fs
c.943_944fs
Surrounding Variants
1 paper
NM_016222.4
p.H315Q
c.945C>G
1 paper
NM_016222.4
p.H315Q
c.945C>A
6 papers
NM_016222.4
p.M316fs
c.946_947fs
1 paper
NM_016222.4
p.H315delFs
c.945delG
10 papers
NM_016222.4
p.M316fs
c.946_947fs
3 papers
NM_016222.4
p.M316delFs
c.946_947delAT
1 paper
NM_016222.4
p.M316delFs
c.947_948delCA
1 paper
NM_016222.4
p.M317I
c.951G>T
1 paper
NM_016222.4
p.M317I
c.951G>C
1 paper
NM_016222.4
p.M317I
c.951G>A
5 papers
NM_016222.4
p.V318L
c.952G>T
5 papers
NM_016222.4
p.V318L
c.952G>C
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