Varaico: Literature-Extracted Genetic Variants

DDX21

92 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 210–385UCSCDEAD/DEAH box helicase

Helicase_Caa 422–532UCSCHelicase conserved C-terminal domain

DD_DDX21-DDX50aa 513–564UCSCDDX21/DDX50 dimerisation domain

GUCTaa 566–661UCSCGUCT (NUC152) domain

Gene Aliases

HGNC Name

DExD-box helicase 21

HGNC Alias Symbols

RH-II/GU; GURDB; Gu-alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004728.4

p.G680D

c.2039G>A

Surrounding Variants

1 paper

NM_004728.4

p.G680C

c.2038G>T

1 paper

NM_004728.4

p.A688T

c.2062G>A

1 paper

NM_004728.4

p.E692*

c.2074G>T

1 paper

NM_004728.4

p.S706P

c.2116T>C

1 paper

NM_004728.4

p.A708A

c.2124C>T

1 paper

NM_004728.4

p.G716G

c.2148A>T

1 paper

NM_004728.4

p.P717S

c.2149C>T

1 paper

NM_004728.4

p.G760E

c.2279G>A

1 paper

NM_004728.4

p.R775W

c.2323C>T

1 paper

NM_004728.4

p.R775Q

c.2324G>A

1 paper

NM_004728.4

p.I645T

c.1934T>C

1 paper

NM_004728.4

p.I640I

c.1920C>T