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.C649S

c.1946G>C

Surrounding Variants

1 paper

NM_004939.3

p.C649S

c.1945T>A

1 paper

NM_004939.3

p.I651insFs

c.1952dupT

1 paper

NM_004939.3

p.W652fs

c.1954_1955fs

1 paper

NM_004939.3

p.N654S

c.1961A>G

1 paper

NM_004939.3

p.S660C

c.1979C>G

1 paper

NM_004939.3

p.V679L

c.2035G>T

1 paper

NM_004939.3

p.G697D

c.2090G>A

1 paper

NM_004939.3

p.E622V

c.1865A>T

1 paper

NM_004939.3

p.H601Q

c.1803T>A

1 paper

NM_004939.3

p.H601Q

c.1803T>G

1 paper

NM_004939.3

p.V600I

c.1798G>A

3 papers

NM_004939.3

p.Y599Y

c.1797C>T