Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.K18R

RIGI

518 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration o...

Pfam Domains

CARD_2aa 1–93UCSCCaspase recruitment domain
DEADaa 41–217UCSCDEAD/DEAH box helicase
CARD_2aa 99–190UCSCCaspase recruitment domain
RIG-I_Caa 254–399UCSCRIG-I receptor C-terminal domain
Helicase_Caa 406–531UCSCHelicase conserved C-terminal domain
RIG-I_C-RDaa 603–720UCSCC-terminal domain of RIG-I

Gene Aliases

HGNC Name

RNA sensor RIG-I

HGNC Previous Symbol

DDX58

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014314.4
p.K18R
c.53A>G
Surrounding Variants
1 paper
NM_014314.4
p.P22A
c.64C>G
1 paper
NM_014314.4
p.P22T
c.64C>A
1 paper
NM_014314.4
p.Q13Q
c.39G>A
1 paper
NM_014314.4
p.T23T
c.69C>G
1 paper
NM_014314.4
p.A11fs
c.31_32fs
1 paper
NM_014314.4
p.I25M
c.75C>G
1 paper
NM_014314.4
p.Q10H
c.30A>T
1 paper
NM_014314.4
p.Q10K
c.28C>A
1 paper
NM_014314.4
p.S8R
c.24C>G
1 paper
NM_014314.4
p.S8R
c.24C>A
1 paper
NM_014314.4
p.S8N
c.23G>A
1 paper
NM_014314.4
p.S8R
c.22A>C
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