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.K432R

c.1295A>G

Surrounding Variants

1 paper

NM_004939.3

p.V429I

c.1285G>A

1 paper

NM_004939.3

p.D439H

c.1315G>C

1 paper

NM_004939.3

p.M423I

c.1269G>A

1 paper

NM_004939.3

p.E420K

c.1258G>A

1 paper

NM_004939.3

p.V445I

c.1333G>A

1 paper

NM_004939.3

p.L418P

c.1253T>C

1 paper

NM_004939.3

p.V415A

c.1244T>C

1 paper

NM_004939.3

p.D414N

c.1240G>A

1 paper

NM_004939.3

p.K461N

c.1383G>C

1 paper

NM_004939.3

p.K461N

c.1383G>T

3 papers

NM_004939.3

p.V469I

c.1405G>A

1 paper

NM_004939.3

p.P482Q

c.1445C>A