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.R813C

c.2437C>T

Surrounding Variants

1 paper

NM_004818.3

p.H798Y

c.2392C>T

2 papers

NM_004818.3

p.E794K

c.2380G>A

1 paper

NM_004818.3

p.P793L

c.2378C>T

1 paper

NM_004818.3

p.P792T

c.2374C>A

1 paper

NM_004818.3

p.A782A

c.2346T>A

1 paper

NM_004818.3

p.F776L

c.2328C>G

1 paper

NM_004818.3

p.F776L

c.2328C>A

1 paper

NM_004818.3

p.F776L

c.2326T>C

1 paper

NM_004818.3

p.E771Q

c.2311G>C

1 paper

NM_004818.3

p.T755M

c.2264C>T

1 paper

NM_004818.3

p.R754C

c.2260C>T

1 paper

NM_004818.3

p.G727D

c.2180G>A