Varaico: Literature-Extracted Genetic Variants

Gene:DDX11
Variant:p.H396D

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.H396D
c.1186C>G
Surrounding Variants
2 papers
NM_030653.4
p.A395A
c.1185G>A
1 paper
NM_030653.4
p.A395G
c.1184C>G
1 paper
NM_030653.4
p.I402_T403del1
c.1206_1208delCAC
1 paper
NM_030653.4
p.Q388*
c.1162C>T
6 papers
NM_030653.4
p.S407R
c.1219A>C
1 paper
NM_030653.4
p.L385L
c.1153C>T
6 papers
NM_030653.4
p.S407R
c.1221C>A
6 papers
NM_030653.4
p.S407R
c.1221C>G
2 papers
NM_030653.4
p.A381A
c.1143G>A
1 paper
NM_030653.4
p.A381V
c.1142C>T
5 papers
NM_030653.4
p.A380A
c.1140C>T
1 paper
NM_030653.4
p.R378Q
c.1133G>A
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