Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.S204N

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.S204N
c.611G>A
Surrounding Variants
1 paper
NM_030653.4
p.E203K
c.607G>A
3 papers
NM_030653.4
p.Y202*
c.606C>A
3 papers
NM_030653.4
p.Y202*
c.606C>G
3 papers
NM_030653.4
p.Y202delFs
c.606delC
2 papers
NM_030653.4
p.E201K
c.601G>A
1 paper
NM_030653.4
p.K209fs
c.625_626fs
1 paper
NM_030653.4
p.V210delFs
c.628delG
1 paper
NM_030653.4
p.V210fs
c.628_629fs
1 paper
NM_030653.4
p.L197V
c.589C>G
3 papers
NM_030653.4
p.E196E
c.588G>A
3 papers
NM_030653.4
p.R213G
c.637A>G
5 papers
NM_030653.4
p.R213Splc
c.638+1G>A
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