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

Selected Variant

9 papers

NM_014314.4

p.K48R

c.143A>G

Surrounding Variants

1 paper

NM_014314.4

p.G49D

c.146G>A

1 paper

NM_014314.4

p.M51V

c.151A>G

1 paper

NM_014314.4

p.M51R

c.152T>G

1 paper

NM_014314.4

p.K45R

c.134A>G

1 paper

NM_014314.4

p.E52*

c.154G>T

1 paper

NM_014314.4

p.E52A

c.155A>C

1 paper

NM_014314.4

p.E52del1

c.154_155delCTC

1 paper

NM_014314.4

p.T55A

c.163A>G

13 papers

NM_014314.4

p.T55I

c.164C>T

1 paper

NM_014314.4

p.Y40C

c.119A>G

1 paper

NM_014314.4

p.Q39R

c.116A>G

1 paper

NM_014314.4

p.K59R

c.176A>G