Varaico: Literature-Extracted Genetic Variants

DDX23

104 papers

RefSeq Summary

This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number o...

Pfam Domains

DDX23aa 272–356UCSCDDX23-like domain

DEADaa 415–616UCSCDEAD/DEAH box helicase

Helicase_Caa 650–759UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 23

HGNC Alias Symbols

Prp28; U5-100KD; PRPF28; SNRNP100

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004818.3

p.Q482*

c.1444C>T

Surrounding Variants

1 paper

NM_004818.3

p.F491L

c.1471T>C

1 paper

NM_004818.3

p.F491L

c.1473T>G

1 paper

NM_004818.3

p.F491L

c.1473T>A

1 paper

NM_004818.3

p.Q511*

c.1531C>T

1 paper

NM_004818.3

p.R516H

c.1547G>A

1 paper

NM_004818.3

p.V522E

c.1565T>A

3 papers

NM_004818.3

p.R528C

c.1582C>T

3 papers

NM_004818.3

p.R528H

c.1583G>A

2 papers

NM_004818.3

p.R542H

c.1625G>A

1 paper

NM_004818.3

p.C543*

c.1629T>A

1 paper

NM_004818.3

p.V546M

c.1636G>A

1 paper

NM_004818.3

p.D549V

c.1646A>T