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.Y758*

c.2274C>A

Surrounding Variants

1 paper

NM_024072.4

p.Y758Y

c.2274C>T

1 paper

NM_024072.4

p.Y758*

c.2274C>G

1 paper

NM_024072.4

p.G756S

c.2266G>A

1 paper

NM_024072.4

p.W732Splc

c.2196-2A>C

1 paper

NM_024072.4

p.S782*

c.2345C>A

2 papers

NM_024072.4

p.R790W

c.2368C>T

1 paper

NM_024072.4

p.P793P

c.2379A>G

1 paper

NM_024072.4

p.G726D

c.2177G>A

1 paper

NM_024072.4

p.D714H

c.2140G>C

1 paper

NM_024072.4

p.G702fs

c.2104_2105fs

1 paper

NM_024072.4

p.R693Q

c.2078G>A

1 paper

NM_024072.4

p.Q675K

c.2023C>A