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

Selected Variant

1 paper

NM_003587.5

p.M500T

c.1499T>C

Surrounding Variants

1 paper

NM_003587.5

p.Y495Y

c.1485C>T

1 paper

NM_003587.5

p.R490Q

c.1469G>A

1 paper

NM_003587.5

p.E484A

c.1451A>C

4 papers

NM_003587.5

p.R482H

c.1445G>A

1 paper

NM_003587.5

p.Y479D

c.1435T>G

1 paper

NM_003587.5

p.V477A

c.1430T>C

1 paper

NM_003587.5

p.A462T

c.1384G>A

1 paper

NM_003587.5

p.A458T

c.1372G>A

6 papers

NM_003587.5

p.R454W

c.1360C>T

1 paper

NM_003587.5

p.G440D

c.1319G>A

1 paper

NM_003587.5

p.E438A

c.1313A>C

7 papers

NM_003587.5

p.G427E

c.1280G>A