Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.A346V

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
2 papers
NM_016222.4
p.A346V
c.1037C>T
Surrounding Variants
2 papers
NM_016222.4
p.A346D
c.1037C>A
3 papers
NM_016222.4
p.A346P
c.1036G>C
6 papers
NM_016222.4
p.A346T
c.1036G>A
14 papers
NM_016222.4
p.E345D
c.1035G>T
14 papers
NM_016222.4
p.E345D
c.1035G>C
1 paper
NM_016222.4
p.E345A
c.1034A>C
1 paper
NM_016222.4
p.A342_A346del5
c.1024_1037del15
1 paper
NM_016222.4
p.E345Q
c.1033G>C
8 papers
NM_016222.4
p.E345K
c.1033G>A
9 papers
NM_016222.4
p.D344E
c.1032C>G
9 papers
NM_016222.4
p.D344E
c.1032C>A
1 paper
NM_016222.4
p.R348H
c.1043G>A
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