Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.E122D

DDX11

223 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

DEAD_2aa 231–415UCSCDEAD_2
Helicase_C_2aa 692–829UCSCHelicase C-terminal domain

Gene Aliases

HGNC Name

DEAD/H-box helicase 11

HGNC Alias Symbols

ChlR1; KRG-2; WABS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030653.4
p.E122D
c.366A>C
Surrounding Variants
1 paper
NM_030653.4
p.E122D
c.366A>T
1 paper
NM_030653.4
p.L126L
c.376C>T
1 paper
NM_030653.4
p.V118L
c.352G>C
1 paper
NM_030653.4
p.V118L
c.352G>T
1 paper
NM_030653.4
p.V118fs
c.352_353fs
1 paper
NM_030653.4
p.R129*
c.385C>T
1 paper
NM_030653.4
p.P111L
c.332C>T
1 paper
NM_030653.4
p.P105delFs
c.314delC
1 paper
NM_030653.4
p.E87K
c.259G>A
1 paper
NM_030653.4
p.E78G
c.233A>G
1 paper
NM_030653.4
p.L76F
c.226C>T
1 paper
NM_030653.4
p.A74S
c.220G>T
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