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

3 papers

NM_024072.4

p.E640_A641del1

c.1919_1921delCCT

Surrounding Variants

1 paper

NM_024072.4

p.E634Q

c.1900G>C

1 paper

NM_024072.4

p.R625L

c.1874G>T

1 paper

NM_024072.4

p.E613Q

c.1837G>C

1 paper

NM_024072.4

p.R611Q

c.1832G>A

1 paper

NM_024072.4

p.G610E

c.1829G>A

1 paper

NM_024072.4

p.Q608L

c.1823A>T

1 paper

NM_024072.4

p.E646_D647Splc

c.1938+115G>A

1 paper

NM_024072.4

p.A580T

c.1738G>A

1 paper

NM_024072.4

p.I578N

c.1733T>A

1 paper

NM_024072.4

p.A573_T574Splc

c.1720-9C>T

1 paper

NM_024072.4

p.R664fs

c.1990_1991fs

1 paper

NM_024072.4

p.R669W

c.2005C>T