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

3 papers

NM_003587.5

p.V644A

c.1931T>C

Surrounding Variants

1 paper

NM_003587.5

p.N650S

c.1949A>G

1 paper

NM_003587.5

p.D630G

c.1889A>G

1 paper

NM_003587.5

p.Q661*

c.1981C>T

1 paper

NM_003587.5

p.P664L

c.1991C>T

1 paper

NM_003587.5

p.A623D

c.1868C>A

1 paper

NM_003587.5

p.E622D

c.1866G>T

1 paper

NM_003587.5

p.E622D

c.1866G>C

1 paper

NM_003587.5

p.L612M

c.1834C>A

1 paper

NM_003587.5

p.Q601*

c.1801C>T

1 paper

NM_003587.5

p.D590G

c.1769A>G

1 paper

NM_003587.5

p.A586V

c.1757C>T

6 papers

NM_003587.5

p.F582I

c.1744T>A