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

1 paper

NM_014314.4

p.F310L

c.930C>A

Surrounding Variants

1 paper

NM_014314.4

p.F310L

c.930C>G

1 paper

NM_014314.4

p.F310fs

c.928_929fs

1 paper

NM_014314.4

p.F310delFs

c.929delA

1 paper

NM_014314.4

p.F310L

c.928T>C

1 paper

NM_014314.4

p.E315D

c.945A>C

4 papers

NM_014314.4

p.R316*

c.946A>T

1 paper

NM_014314.4

p.Q305E

c.913C>G

1 paper

NM_014314.4

p.P301R

c.902C>G

1 paper

NM_014314.4

p.N298S

c.893A>G

1 paper

NM_014314.4

p.A297fs

c.889_890fs

1 paper

NM_001385910.1

p.V146I

c.436G>A

1 paper

NM_014314.4

p.K292R

c.875A>G