Varaico: Literature-Extracted Genetic Variants

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

1–12 of 281 variants

24 papers

NM_014314.4

p.E373A

c.1118A>C

23 papers

NM_014314.4

p.R7C

c.19C>T

21 papers

NM_014314.4

p.C268F

c.803G>T

15 papers

NM_014314.4

p.R71H

c.212G>A

15 papers

NM_014314.4

p.D580E

c.1740T>G

15 papers

NM_014314.4

p.D580E

c.1740T>A

13 papers

NM_014314.4

p.T55I

c.164C>T

12 papers

NM_014314.4

p.K172R

c.515A>G

9 papers

NM_014314.4

p.K48R

c.143A>G

9 papers

NM_014314.4

p.S183I

c.548G>T

8 papers

NM_014314.4

p.S144F

c.431C>T

8 papers

NM_014314.4

p.Q517H

c.1551G>T