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

3 papers

NM_004939.3

p.K52N

c.156A>T

Surrounding Variants

3 papers

NM_004939.3

p.K52N

c.156A>C

1 paper

NM_004939.3

p.S50N

c.149G>A

1 paper

NM_004939.3

p.E47fs

c.139_140fs

1 paper

NM_004939.3

p.E73*

c.217G>T

1 paper

NM_004939.3

p.L43F

c.127C>T

1 paper

NM_004939.3

p.G39E

c.116G>A

1 paper

NM_004939.3

p.L37F

c.111A>C

1 paper

NM_004939.3

p.L37F

c.111A>T

1 paper

NM_004939.3

p.P34_L35insAT

c.100_104ins6

1 paper

NM_004939.3

p.I33T

c.98T>C

1 paper

NM_004939.3

p.I33_P34insT

c.97_101ins3

4 papers

NM_004939.3

p.T26A

c.76A>G