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.R231_E233del3

c.691_698del9

Surrounding Variants

1 paper

NM_003587.5

p.R231P

c.692G>C

1 paper

NM_003587.5

p.A248E

c.743C>A

1 paper

NM_003587.5

p.L256F

c.766C>T

1 paper

NM_003587.5

p.R277Q

c.830G>A

1 paper

NM_003587.5

p.D278G

c.833A>G

1 paper

NM_003587.5

p.A286D

c.857C>A

1 paper

NM_003587.5

p.A294T

c.880G>A

1 paper

NM_003587.5

p.R297H

c.890G>A

1 paper

NM_003587.5

p.R328C

c.982C>T

1 paper

NM_003587.5

p.K340T

c.1019A>C

1 paper

NM_003587.5

p.S348Y

c.1043C>A

1 paper

NM_003587.5

p.K352R

c.1055A>G