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.L196P

c.587T>C

Surrounding Variants

1 paper

NM_004939.3

p.G201G

c.603A>G

3 papers

NM_004939.3

p.V203L

c.607G>C

2 papers

NM_004939.3

p.F167L

c.499T>C

1 paper

NM_004939.3

p.T151I

c.452C>T

1 paper

NM_004939.3

p.W149C

c.447G>C

1 paper

NM_004939.3

p.W149C

c.447G>T

1 paper

NM_004939.3

p.D141E

c.423C>A

1 paper

NM_004939.3

p.Y134C

c.401A>G

1 paper

NM_004939.3

p.L214M

c.640C>A

1 paper

NM_004939.3

p.L227L

c.681C>T

1 paper

NM_004939.3

p.K234_N235Splc

c.703-2A>G

1 paper

NM_004939.3

p.E245D

c.735G>C