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

1 paper

NM_024045.2

p.P219A

c.655C>G

Surrounding Variants

1 paper

NM_024045.2

p.R257Q

c.770G>A

1 paper

NM_024045.2

p.G268S

c.802G>A

1 paper

NM_024045.2

p.V292M

c.874G>A

1 paper

NM_024045.2

p.F300F

c.900C>T

1 paper

NM_024045.2

p.D306N

c.916G>A

1 paper

NM_024045.2

p.I308T

c.923T>C

1 paper

NM_024045.2

p.I308S

c.923T>G

1 paper

NM_024045.2

p.A337fs

c.1009_1010fs

1 paper

NM_024045.2

p.A337_K338insFs

c.1011_1012insA

1 paper

NM_024045.2

p.D349A

c.1046A>C

1 paper

NM_024045.2

p.R210H

c.629G>A

2 papers

NM_024045.2

p.S209fs

c.625_626fs