Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.Q329fs

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
1 paper
NM_016222.4
p.Q329fs
c.985_986fs
Surrounding Variants
2 papers
NM_016222.4
p.Q329*
c.985C>T
7 papers
NM_016222.4
p.L328R
c.983T>G
1 paper
NM_016222.4
p.K331E
c.991A>G
2 papers
NM_016222.4
p.K331M
c.992A>T
26 papers
NM_016222.4
p.K331del1
c.991_992delCTT
1 paper
NM_016222.4
p.V333I
c.997G>A
1 paper
NM_016222.4
p.K331_M332del2
c.991_995del6
1 paper
NM_016222.4
p.V333D
c.998T>A
1 paper
NM_016222.4
p.S334N
c.1001G>A
8 papers
NM_016222.4
p.R323H
c.968G>A
7 papers
NM_016222.4
p.R323C
c.967C>T
3 papers
NM_016222.4
p.R323S
c.967C>A
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