Varaico: Literature-Extracted Genetic Variants

DDX50

76 papers

RefSeq Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary ...

Pfam Domains

DEADaa 161–336UCSCDEAD/DEAH box helicase

Helicase_Caa 374–483UCSCHelicase conserved C-terminal domain

DD_DDX21-DDX50aa 518–569UCSCDDX21/DDX50 dimerisation domain

GUCTaa 571–665UCSCGUCT (NUC152) domain

Gene Aliases

HGNC Name

DExD-box helicase 50

HGNC Alias Symbols

GU2; MGC3199; GUB; RH-II/GuB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024045.2

p.D543Y

c.1627G>T

Surrounding Variants

1 paper

NM_024045.2

p.A567A

c.1701C>T

1 paper

NM_024045.2

p.R578*

c.1732C>T

1 paper

NM_024045.2

p.K585N

c.1755G>T

1 paper

NM_024045.2

p.P517H

c.1550C>A

1 paper

NM_024045.2

p.R513H

c.1538G>A

1 paper

NM_024045.2

p.K585_G586Splc

c.1755+1783T>C

1 paper

NM_024045.2

p.E496A

c.1487A>C

1 paper

NM_024045.2

p.G483A

c.1448G>C

1 paper

NM_024045.2

p.Q467_D468Splc

c.1402-7T>C

1 paper

NM_024045.2

p.P466L

c.1397C>T

1 paper

NM_024045.2

p.L431Q

c.1292T>A

1 paper

NM_024045.2

p.R610K

c.1829G>A