Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.E166del1

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
3 papers
NM_030653.4
p.E166del1
c.496_497delGAA
Surrounding Variants
1 paper
NM_030653.4
p.E163*
c.487G>T
15 papers
NM_030653.4
p.R167T
c.500G>C
2 papers
NM_030653.4
p.P182R
c.545C>G
1 paper
NM_030653.4
p.A184A
c.552T>C
10 papers
NM_030653.4
p.R186W
c.556C>T
1 paper
NM_030653.4
p.E188K
c.562G>A
1 paper
NM_030653.4
p.Q189*
c.565C>T
1 paper
NM_030653.4
p.E194fs
c.580_581fs
3 papers
NM_030653.4
p.E196E
c.588G>A
1 paper
NM_030653.4
p.L197V
c.589C>G
2 papers
NM_030653.4
p.E201K
c.601G>A
3 papers
NM_030653.4
p.Y202delFs
c.606delC
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