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.R521H

c.1562G>A

Surrounding Variants

1 paper

NM_024072.4

p.V511F

c.1531G>T

1 paper

NM_024072.4

p.V511I

c.1531G>A

1 paper

NM_024072.4

p.R510H

c.1529G>A

1 paper

NM_024072.4

p.S502L

c.1505C>T

1 paper

NM_024072.4

p.E490K

c.1468G>A

1 paper

NM_024072.4

p.G472V

c.1415G>T

2 papers

NM_024072.4

p.S549S

c.1647C>T

1 paper

NM_024072.4

p.S550S

c.1650G>A

1 paper

NM_024072.4

p.A573_T574Splc

c.1720-9C>T

1 paper

NM_024072.4

p.I578N

c.1733T>A

1 paper

NM_024072.4

p.A580T

c.1738G>A

1 paper

NM_024072.4

p.Q608L

c.1823A>T