Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.L237*

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.L237*
c.710T>A
Surrounding Variants
5 papers
NM_016222.4
p.L237W
c.710T>G
12 papers
NM_016222.4
p.L237F
c.711G>T
12 papers
NM_016222.4
p.L237F
c.711G>C
1 paper
NM_016222.4
p.T236T
c.708G>A
1 paper
NM_016222.4
p.P238S
c.712C>T
11 papers
NM_016222.4
p.P238T
c.712C>A
3 papers
NM_016222.4
p.T236M
c.707C>T
2 papers
NM_016222.4
p.P238R
c.713C>G
1 paper
NM_016222.4
p.T236R
c.707C>G
1 paper
NM_016222.4
p.V239I
c.715G>A
3 papers
NM_016222.4
p.F235fs
c.703_704fs
1 paper
NM_016222.4
p.F235fs
c.703_704fs
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