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

1–12 of 118 variants

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.R53C

c.157C>T

2 papers

NM_004818.3

p.K87K

c.261G>A

2 papers

NM_004818.3

p.R542H

c.1625G>A

2 papers

NM_004818.3

p.I629S

c.1886T>G

2 papers

NM_004818.3

p.Y689C

c.2066A>G

2 papers

NM_004818.3

p.A706V

c.2117C>T

2 papers

NM_004818.3

p.E794K

c.2380G>A

1 paper

NM_004818.3

p.M1I

c.3G>T

1 paper

NM_004818.3

p.S14S

c.42A>C

1 paper

NM_004818.3

p.E19Q

c.55G>C