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.K21R

c.62A>G

Surrounding Variants

1 paper

NM_004818.3

p.R22Q

c.65G>A

1 paper

NM_004818.3

p.S23L

c.68C>T

1 paper

NM_004818.3

p.E19G

c.56A>G

1 paper

NM_004818.3

p.E19Q

c.55G>C

1 paper

NM_004818.3

p.R24Q

c.71G>A

1 paper

NM_004818.3

p.S14S

c.42A>C

1 paper

NM_004818.3

p.D33E

c.99C>G

1 paper

NM_004818.3

p.D33E

c.99C>A

1 paper

NM_004818.3

p.R34Q

c.101G>A

1 paper

NM_004818.3

p.R36R

c.106C>A

1 paper

NM_004818.3

p.K37K

c.111G>A

1 paper

NM_004818.3

p.S38P

c.112T>C