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.A864G

c.2591C>G

Surrounding Variants

1 paper

NM_003587.5

p.R915Q

c.2744G>A

1 paper

NM_003587.5

p.R938H

c.2813G>A

1 paper

NM_003587.5

p.Y949H

c.2845T>C

2 papers

NM_003587.5

p.S825F

c.2474C>T

1 paper

NM_003587.5

p.D821A

c.2462A>C

1 paper

NM_003587.5

p.P783A

c.2347C>G

1 paper

NM_003587.5

p.H773R

c.2318A>G

1 paper

NM_003587.5

p.E754K

c.2260G>A

1 paper

NM_003587.5

p.K716_A717Splc

c.2148+4A>C

6 papers

NM_003587.5

p.Q697H

c.2091G>T

6 papers

NM_003587.5

p.Q697H

c.2091G>C

4 papers

NM_003587.5

p.E678G

c.2033A>G