Varaico: Literature-Extracted Genetic Variants

Gene:DDX6
Variant:p.I407V

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.I407V
c.1219A>G
Surrounding Variants
1 paper
NM_004397.6
p.I398M
c.1194T>G
1 paper
NM_004397.6
p.Y418delFs
c.1253delT
1 paper
NM_004397.6
p.L393delFs
c.1177_1178delAG
1 paper
NM_004397.6
p.L393fs
c.1177_1178fs
1 paper
NM_004397.6
p.R427H
c.1280G>A
1 paper
NM_004397.6
p.G454E
c.1361G>A
1 paper
NM_004397.6
p.E456Q
c.1366G>C
1 paper
NM_004397.6
p.K466N
c.1398G>T
1 paper
NM_004397.6
p.K466N
c.1398G>C
1 paper
NM_004397.6
p.V470G
c.1409T>G
1 paper
NM_004397.6
p.S475G
c.1423A>G
2 papers
NM_004397.6
p.E476G
c.1427A>G
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