Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.L185L

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.L185L
c.553C>T
Surrounding Variants
9 papers
NM_014314.4
p.S183I
c.548G>T
1 paper
NM_014314.4
p.F182V
c.544T>G
2 papers
NM_014314.4
p.K181R
c.542A>G
2 papers
NM_014314.4
p.K190R
c.569A>G
1 paper
NM_014314.4
p.K177R
c.530A>G
1 paper
NM_014314.4
p.E176D
c.528G>T
1 paper
NM_014314.4
p.E176D
c.528G>C
1 paper
NM_014314.4
p.L173R
c.518T>G
12 papers
NM_014314.4
p.K172R
c.515A>G
2 papers
NM_014314.4
p.K169R
c.506A>G
1 paper
NM_014314.4
p.E165V
c.494A>T
3 papers
NM_014314.4
p.K164R
c.491A>G
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