Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.K130fs

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.K130fs
c.388_389fs
Surrounding Variants
1 paper
NM_016222.4
p.K130*
c.388A>T
1 paper
NM_016222.4
p.V129insFs
c.386dupT
1 paper
NM_016222.4
p.K130fs
c.388_389fs
5 papers
NM_016222.4
p.E131*
c.391G>T
1 paper
NM_016222.4
p.E131K
c.391G>A
1 paper
NM_016222.4
p.V129M
c.385G>A
1 paper
NM_016222.4
p.K130del1
c.388_389delCTT
4 papers
NM_016222.4
p.L126*
c.377T>A
2 papers
NM_016222.4
p.K134R
c.401A>G
1 paper
NM_016222.4
p.A125Splc
c.374-1G>T
1 paper
NM_016222.4
p.G135V
c.404G>T
1 paper
NM_016222.4
p.T137fs
c.409_410fs
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