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

1–12 of 66 variants

2 papers

NM_024045.2

p.S41L

c.122C>T

2 papers

NM_024045.2

p.R132C

c.394C>T

2 papers

NM_024045.2

p.G156R

c.466G>A

2 papers

NM_024045.2

p.G156R

c.466G>C

2 papers

NM_024045.2

p.S209fs

c.625_626fs

2 papers

NM_024045.2

p.D543Y

c.1627G>T

1 paper

NM_024045.2

p.P2S

c.4C>T

1 paper

NM_024045.2

p.K25del1

c.73_75delAAG

1 paper

NM_024045.2

p.R32R

c.96A>G

1 paper

NM_024045.2

p.P59L

c.176C>T

1 paper

NM_024045.2

p.E68K

c.202G>A

1 paper

NM_024045.2

p.D73_E75del3

c.217_224del9