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

1–12 of 78 variants

3 papers

NM_024072.4

p.E640_A641del1

c.1919_1921delCCT

2 papers

NM_024072.4

p.G6R

c.16G>C

2 papers

NM_024072.4

p.R425H

c.1274G>A

2 papers

NM_024072.4

p.S549S

c.1647C>T

2 papers

NM_024072.4

p.R790W

c.2368C>T

1 paper

NM_024072.4

p.W20R

c.58T>C

1 paper

NM_024072.4

p.W20R

c.58T>A

1 paper

NM_024072.4

p.R30Q

c.89G>A

1 paper

NM_024072.4

p.A32V

c.95C>T

1 paper

NM_024072.4

p.A32delFs

c.94delC

1 paper

NM_024072.4

p.F68L

c.202T>C

1 paper

NM_024072.4

p.F68L

c.204C>A