Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.L496Q

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.L496Q
c.1487T>A
Surrounding Variants
2 papers
NM_016222.4
p.K494T
c.1481A>C
7 papers
NM_016222.4
p.F498fs
c.1492_1493fs
4 papers
NM_016222.4
p.K494E
c.1480A>G
1 paper
NM_016222.4
p.P499S
c.1495C>T
1 paper
NM_016222.4
p.S493Y
c.1478C>A
16 papers
NM_016222.4
p.P499insFs
c.1496dupC
8 papers
NM_016222.4
p.P499fs
c.1495_1496fs
2 papers
NM_016222.4
p.P499delFs
c.1496delG
3 papers
NM_016222.4
p.A492fs
c.1474_1475fs
24 papers
NM_016222.4
p.A500fs
c.1498_1499fs
1 paper
NM_016222.4
p.A492G
c.1475C>G
3 papers
NM_016222.4
p.A492insFs
c.1474dupG
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