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.D342Y

c.1024G>T

Surrounding Variants

1 paper

NM_004728.4

p.D342A

c.1025A>C

1 paper

NM_004728.4

p.V336I

c.1006G>A

1 paper

NM_004728.4

p.D351N

c.1051G>A

1 paper

NM_004728.4

p.S358G

c.1072A>G

1 paper

NM_001256910.2

p.H254N

c.760C>A

1 paper

NM_004728.4

p.N307D

c.919A>G

1 paper

NM_004728.4

p.K285del1

c.853_854delAAA

1 paper

NM_004728.4

p.L272L

c.814T>C

1 paper

NM_004728.4

p.R270*

c.808A>T

2 papers

NM_004728.4

p.A376E

c.1127C>A

1 paper

NM_004728.4

p.K406R

c.1217A>G

1 paper

NM_004728.4

p.I416V

c.1246A>G