Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.K247R

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.K247R
c.740A>G
Surrounding Variants
1 paper
NM_030653.4
p.V246M
c.736G>A
2 papers
NM_030653.4
p.V243M
c.727G>A
1 paper
NM_030653.4
p.R256W
c.766C>T
1 paper
NM_030653.4
p.Q238H
c.714G>C
1 paper
NM_030653.4
p.Q238H
c.714G>T
1 paper
NM_030653.4
p.Q238*
c.712C>T
1 paper
NM_030653.4
p.S237A
c.709T>G
2 papers
NM_030653.4
p.S259S
c.777C>T
1 paper
NM_030653.4
p.R234G
c.700C>G
26 papers
NM_030653.4
p.R263Q
c.788G>A
1 paper
NM_030653.4
p.N265K
c.795C>A
1 paper
NM_030653.4
p.N265K
c.795C>G
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