Varaico: Literature-Extracted Genetic Variants

Gene:DDX6
Variant:p.P295L

DDX6

114 papers

RefSeq Summary

This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is re...

Pfam Domains

DEADaa 120–287UCSCDEAD/DEAH box helicase
Helicase_Caa 320–429UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 6

HGNC Previous Symbol

HLR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004397.6
p.P295L
c.884C>T
Surrounding Variants
2 papers
NM_004397.6
p.Y296*
c.888T>G
2 papers
NM_004397.6
p.Y296*
c.888T>A
1 paper
NM_004397.6
p.A314T
c.940G>A
1 paper
NM_004397.6
p.N326S
c.977A>G
1 paper
NM_004397.6
p.S330T
c.988T>A
1 paper
NM_004397.6
p.F287L
c.861C>G
1 paper
NM_004397.6
p.F287L
c.861C>A
1 paper
NM_004397.6
p.F287L
c.859T>C
1 paper
NM_004397.6
p.R271S
c.813G>T
1 paper
NM_004397.6
p.R271S
c.813G>C
1 paper
NM_004397.6
p.N270insFs
c.810dupC
1 paper
NM_004397.6
p.D262V
c.785A>T
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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."