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.E47D

c.141G>T

Surrounding Variants

1 paper

NM_004728.4

p.E47D

c.141G>C

3 papers

NM_004728.4

p.S71A

c.211T>G

1 paper

NM_004728.4

p.A77S

c.229G>T

1 paper

NM_004728.4

p.Q85E

c.253C>G

1 paper

NM_004728.4

p.D87A

c.260A>C

2 papers

NM_004728.4

p.S89A

c.265T>G

1 paper

NM_004728.4

p.P90H

c.269C>A

1 paper

NM_004728.4

p.K104N

c.312G>C

1 paper

NM_004728.4

p.T111P

c.331A>C

2 papers

NM_004728.4

p.S121A

c.361T>G

1 paper

NM_004728.4

p.D126A

c.377A>C

1 paper

NM_004728.4

p.H156R

c.467A>G