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.R79Q

c.236G>A

Surrounding Variants

1 paper

NM_004818.3

p.K75N

c.225A>T

1 paper

NM_004818.3

p.K75N

c.225A>C

2 papers

NM_004818.3

p.K87K

c.261G>A

1 paper

NM_004818.3

p.D95H

c.283G>C

1 paper

NM_004818.3

p.G96V

c.287G>T

1 paper

NM_004818.3

p.H97L

c.290A>T

1 paper

NM_004818.3

p.R98K

c.293G>A

1 paper

NM_004818.3

p.K101T

c.302A>C

1 paper

NM_004818.3

p.R64C

c.190C>T

1 paper

NM_004818.3

p.R53R

c.159T>A

2 papers

NM_004818.3

p.R53C

c.157C>T

1 paper

NM_004818.3

p.R46Q

c.137G>A