Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.C338fs

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.C338fs
c.1012_1013fs
Surrounding Variants
5 papers
NM_016222.4
p.C338Y
c.1013G>A
20 papers
NM_016222.4
p.R339C
c.1015C>T
1 paper
NM_016222.4
p.R339G
c.1015C>G
2 papers
NM_016222.4
p.R339S
c.1015C>A
5 papers
NM_016222.4
p.R339L
c.1016G>T
1 paper
NM_016222.4
p.R339P
c.1016G>C
10 papers
NM_016222.4
p.R339H
c.1016G>A
NM_001321732.2
p.R213H
c.638G>A
9 papers
NM_016222.4
p.Y340N
c.1018T>A
1 paper
NM_016222.4
p.I337V
c.1009A>G
1 paper
NM_016222.4
p.Y340S
c.1019A>C
3 papers
NM_016222.4
p.D336fs
c.1006_1007fs
1 paper
NM_016222.4
p.D336N
c.1006G>A
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