Varaico: Literature-Extracted Genetic Variants

DDX54

81 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

DEADaa 120–288UCSCDEAD/DEAH box helicase

Helicase_Caa 322–433UCSCHelicase conserved C-terminal domain

DBP10CTaa 714–774UCSCDBP10CT (NUC160) domain

Gene Aliases

HGNC Name

DEAD-box helicase 54

HGNC Alias Symbols

MGC2835; APR-5; DP97

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024072.4

p.Y353C

c.1058A>G

Surrounding Variants

1 paper

NM_024072.4

p.V334A

c.1001T>C

1 paper

NM_024072.4

p.L298F

c.892C>T

1 paper

NM_024072.4

p.G292Splc

c.874+6T>G

1 paper

NM_024072.4

p.V286M

c.856G>A

1 paper

NM_024072.4

p.T280_P282del3

c.838_845del9

1 paper

NM_024072.4

p.R267H

c.800G>A

1 paper

NM_024072.4

p.R251W

c.751C>T

1 paper

NM_024072.4

p.T375R

c.1124C>G

1 paper

NM_024072.4

p.I379T

c.1136T>C

1 paper

NM_024072.4

p.R400*

c.1198C>T

1 paper

NM_024072.4

p.D408G

c.1223A>G

2 papers

NM_024072.4

p.R425H

c.1274G>A