Varaico: Literature-Extracted Genetic Variants

Gene:DDX6
Variant:p.N43K

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.N43K
c.129C>A
Surrounding Variants
1 paper
NM_004397.6
p.N43K
c.129C>G
1 paper
NM_004397.6
p.K26_M42delFs
c.78_124del47
1 paper
NM_004397.6
p.L45P
c.134T>C
1 paper
NM_004397.6
p.G34fs
c.100_101fs
1 paper
NM_004397.6
p.G33_G34insFs
c.99_100insC
1 paper
NM_004397.6
p.G33R
c.97G>C
1 paper
NM_004397.6
p.G33R
c.97G>A
1 paper
NM_004397.6
p.Q56E
c.166C>G
1 paper
NM_004397.6
p.Q57H
c.171G>T
1 paper
NM_004397.6
p.Q57H
c.171G>C
1 paper
NM_004397.6
p.K26fs
c.76_77fs
2 papers
NM_004397.6
p.M62V
c.184A>G
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