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.V636L

c.1906G>C

Surrounding Variants

1 paper

NM_024045.2

p.Q619H

c.1857G>C

1 paper

NM_024045.2

p.Q619H

c.1857G>T

1 paper

NM_024045.2

p.S618_Q619insA

c.1852_1856ins3

1 paper

NM_024045.2

p.S613_S614del2

c.1837_1841del6

1 paper

NM_024045.2

p.R610K

c.1829G>A

1 paper

NM_024045.2

p.P658Q

c.1973C>A

1 paper

NM_024045.2

p.A659T

c.1975G>A

1 paper

NM_024045.2

p.P662S

c.1984C>T

1 paper

NM_024045.2

p.R689W

c.2065C>T

1 paper

NM_024045.2

p.R692Q

c.2075G>A

1 paper

NM_024045.2

p.R706Q

c.2117G>A

1 paper

NM_024045.2

p.R726P

c.2177G>C