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.V603V

c.1809C>G

Surrounding Variants

1 paper

NM_004818.3

p.M604I

c.1812G>T

1 paper

NM_004818.3

p.M604I

c.1812G>C

1 paper

NM_004818.3

p.M604I

c.1812G>A

1 paper

NM_004818.3

p.R622R

c.1866G>T

1 paper

NM_004818.3

p.R623*

c.1867C>T

1 paper

NM_004818.3

p.V626A

c.1877T>C

2 papers

NM_004818.3

p.I629S

c.1886T>G

1 paper

NM_004818.3

p.G676C

c.2026G>T

1 paper

NM_004818.3

p.S683F

c.2048C>T

1 paper

NM_004818.3

p.Q601_T602Splc

c.1803+20C>T

1 paper

NM_004818.3

p.K587E

c.1759A>G

1 paper

NM_004818.3

p.D549V

c.1646A>T