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.V492fs

c.1474_1475fs

Surrounding Variants

1 paper

NM_004728.4

p.V492_R499delFs

c.1474_1495del22

1 paper

NM_004728.4

p.I478V

c.1432A>G

1 paper

NM_004728.4

p.Q511*

c.1531C>T

1 paper

NM_004728.4

p.Q462_D463Splc

c.1386+1G>A

1 paper

NM_004728.4

p.A459T

c.1375G>A

1 paper

NM_004728.4

p.Q551K

c.1651C>A

1 paper

NM_004728.4

p.E446Q

c.1336G>C

1 paper

NM_004728.4

p.Y434H

c.1300T>C

1 paper

NM_004728.4

p.A424_I431delFs

c.1270_1291del22

1 paper

NM_004728.4

p.I416V

c.1246A>G

1 paper

NM_004728.4

p.G564D

c.1691G>A

1 paper

NM_004728.4

p.A568S

c.1702G>T