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

23 papers

NM_014314.4

p.R7C

c.19C>T

Surrounding Variants

1 paper

NM_014314.4

p.R7R

c.21C>A

1 paper

NM_014314.4

p.S8R

c.22A>C

1 paper

NM_014314.4

p.S8N

c.23G>A

1 paper

NM_014314.4

p.S8R

c.24C>G

1 paper

NM_014314.4

p.S8R

c.24C>A

1 paper

NM_014314.4

p.Q10K

c.28C>A

2 papers

NM_014314.4

p.T3T

c.9C>T

1 paper

NM_014314.4

p.Q10H

c.30A>T

1 paper

NM_014314.4

p.A11fs

c.31_32fs

1 paper

NM_014314.4

p.T2P

c.4A>C

1 paper

NM_014314.4

p.M1R

c.2T>G

2 papers

NM_014314.4

p.M1V

c.1A>G