Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.D580E

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
15 papers
NM_014314.4
p.D580E
c.1740T>G
Surrounding Variants
15 papers
NM_014314.4
p.D580E
c.1740T>A
2 papers
NM_014314.4
p.R575*
c.1723C>T
1 paper
NM_014314.4
p.Q588Q
c.1764G>A
1 paper
NM_014314.4
p.Q588delFs
c.1764delC
1 paper
NM_014314.4
p.F590C
c.1769T>G
1 paper
NM_014314.4
p.D569E
c.1707C>G
1 paper
NM_014314.4
p.D569E
c.1707C>A
1 paper
NM_014314.4
p.D569N
c.1705G>A
1 paper
NM_014314.4
p.D550A
c.1649A>C
1 paper
NM_014314.4
p.D550Y
c.1648G>T
7 papers
NM_014314.4
p.R546Q
c.1637G>A
1 paper
NM_014314.4
p.L538L
c.1612C>T
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