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.L538L

c.1612C>T

Surrounding Variants

7 papers

NM_014314.4

p.R546Q

c.1637G>A

1 paper

NM_014314.4

p.K528R

c.1583A>G

1 paper

NM_014314.4

p.Q524K

c.1570C>A

8 papers

NM_014314.4

p.Q517H

c.1551G>T

8 papers

NM_014314.4

p.Q517H

c.1551G>C

1 paper

NM_014314.4

p.T515I

c.1544C>T

1 paper

NM_014314.4

p.V514A

c.1541T>C

1 paper

NM_014314.4

p.V514I

c.1540G>A

6 papers

NM_014314.4

p.E510V

c.1529A>T

3 papers

NM_014314.4

p.N501Y

c.1501A>T

1 paper

NM_014314.4

p.Q500K

c.1498C>A

2 papers

NM_014314.4

p.Q498R

c.1493A>G