Varaico: Literature-Extracted Genetic Variants

DDX1

93 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 26–83UCSCDEAD/DEAH box helicase

SPRYaa 132–245UCSCSPRY domain

DEADaa 271–418UCSCDEAD/DEAH box helicase

Helicase_Caa 489–610UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 1

HGNC Alias Symbol

DBP-RB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 98 variants

4 papers

NM_004939.3

p.T26A

c.76A>G

3 papers

NM_004939.3

p.K52N

c.156A>C

3 papers

NM_004939.3

p.K52N

c.156A>T

3 papers

NM_004939.3

p.V203L

c.607G>C

3 papers

NM_004939.3

p.V469I

c.1405G>A

3 papers

NM_004939.3

p.Y599Y

c.1797C>T

3 papers

NM_004939.3

p.E721K

c.2161G>A

2 papers

NM_004939.3

p.F167L

c.499T>C

2 papers

NM_004939.3

p.T280R

c.839C>G

1 paper

NM_004939.3

p.M1I

c.3G>A

1 paper

NM_004939.3

p.M1I

c.3G>C

1 paper

NM_004939.3

p.A3V

c.8C>T