Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.E245D

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.E245D
c.735A>T
Surrounding Variants
2 papers
NM_016222.4
p.E245D
c.735A>C
1 paper
NM_016222.4
p.E245fs
c.733_734fs
2 papers
NM_016222.4
p.Q246E
c.736C>G
5 papers
NM_016222.4
p.E245G
c.734A>G
2 papers
NM_016222.4
p.Q246R
c.737A>G
1 paper
NM_016222.4
p.L244P
c.731T>C
13 papers
NM_016222.4
p.E247K
c.739G>A
2 papers
NM_016222.4
p.E247G
c.740A>G
1 paper
NM_016222.4
p.E247E
c.741G>A
1 paper
NM_016222.4
p.C243Y
c.728G>A
1 paper
NM_016222.4
p.R249K
c.746G>A
1 paper
NM_016222.4
p.R249fs
c.745_746fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."