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

Selected Variant

1 paper

NM_004939.3

p.T278_Q279delFs

c.834_837del4

Surrounding Variants

1 paper

NM_004939.3

p.T278fs

c.832_833fs

2 papers

NM_004939.3

p.T280R

c.839C>G

1 paper

NM_004939.3

p.R296Q

c.887G>A

1 paper

NM_004939.3

p.Q301*

c.901C>T

1 paper

NM_004939.3

p.Y312*

c.936C>G

1 paper

NM_004939.3

p.P262L

c.785C>T

1 paper

NM_004939.3

p.L258F

c.772C>T

1 paper

NM_004939.3

p.E245D

c.735G>C

1 paper

NM_004939.3

p.E245D

c.735G>T

1 paper

NM_004939.3

p.K234_N235Splc

c.703-2A>G

1 paper

NM_004939.3

p.L227L

c.681C>T

1 paper

NM_004939.3

p.L214M

c.640C>A