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.V220A

c.659T>C

Surrounding Variants

1 paper

NM_004728.4

p.K224R

c.671A>G

1 paper

NM_004728.4

p.K236Q

c.706A>C

1 paper

NM_004728.4

p.K236E

c.706A>G

2 papers

NM_004728.4

p.K236R

c.707A>G

1 paper

NM_004728.4

p.P261P

c.783T>C

1 paper

NM_004728.4

p.G203Splc

c.607+1G>A

1 paper

NM_004728.4

p.R270*

c.808A>T

1 paper

NM_004728.4

p.L272L

c.814T>C

1 paper

NM_004728.4

p.K285del1

c.853_854delAAA

1 paper

NM_004728.4

p.Q177_E178Splc

c.531+1G>C

1 paper

NM_004728.4

p.D160A

c.479A>C

1 paper

NM_004728.4

p.H156R

c.467A>G