Varaico: Literature-Extracted Genetic Variants

DHX16

117 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 402–561UCSCDEAD/DEAH box helicase

Helicase_Caa 593–730UCSCHelicase conserved C-terminal domain

WHD_HA2aa 792–820UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 821–881UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 939–1015UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAH-box helicase 16

HGNC Previous Symbol

DDX16

Papers

RefSeq ID

Protein change

DNA change

1–12 of 107 variants

8 papers

NM_003587.5

p.T674M

c.2021C>T

7 papers

NM_003587.5

p.G427E

c.1280G>A

6 papers

NM_003587.5

p.R454W

c.1360C>T

6 papers

NM_003587.5

p.F582I

c.1744T>A

6 papers

NM_003587.5

p.Q697H

c.2091G>T

6 papers

NM_003587.5

p.Q697H

c.2091G>C

5 papers

NM_003587.5

p.S378L

c.1133C>T

4 papers

NM_003587.5

p.N414D

c.1240A>G

4 papers

NM_003587.5

p.R482H

c.1445G>A

4 papers

NM_003587.5

p.D566G

c.1697A>G

4 papers

NM_003587.5

p.E678G

c.2033A>G

3 papers

NM_003587.5

p.V644A

c.1931T>C