Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.L508R

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
7 papers
NM_030653.4
p.L508R
c.1523T>G
Surrounding Variants
1 paper
NM_030653.4
p.R514L
c.1541G>T
1 paper
NM_030653.4
p.Y515N
c.1543T>A
1 paper
NM_030653.4
p.R522Q
c.1565G>A
8 papers
NM_030653.4
p.R558*
c.1672C>T
1 paper
NM_030653.4
p.I566V
c.1696A>G
4 papers
NM_030653.4
p.Q567E
c.1699C>G
1 paper
NM_030653.4
p.R497*
c.1489C>T
3 papers
NM_030653.4
p.G588A
c.1763G>C
10 papers
NM_030653.4
p.G588Splc
c.1763-1G>C
1 paper
NM_030653.4
p.G588A
c.1763G>C
1 paper
NM_030653.4
p.G588fs
c.1762_1763fs
1 paper
NM_030653.4
p.Q592E
c.1774C>G
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