Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.S469fs

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
4 papers
NM_030653.4
p.S469fs
c.1405_1406fs
Surrounding Variants
1 paper
NM_030653.4
p.S469fs
c.1405_1406fs
1 paper
NM_030653.4
p.L468fs
c.1402_1403fs
4 papers
NM_030653.4
p.L468insFs
c.1403dupT
1 paper
NM_030653.4
p.S467fs
c.1399_1400fs
1 paper
NM_030653.4
p.T465A
c.1393A>G
1 paper
NM_030653.4
p.G457Splc
c.1370-6T>C
2 papers
NM_030653.4
p.G472Splc
c.1415-7T>C
1 paper
NM_030653.4
p.G472Splc
c.1415-2A>G
1 paper
NM_030653.4
p.T473M
c.1418C>T
1 paper
NM_030653.4
p.E474K
c.1420G>A
1 paper
NM_030653.4
p.K476K
c.1428G>A
1 paper
NM_030653.4
p.I487_N489del3
c.1459_1466del9
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