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.L408L

c.1224C>G

Surrounding Variants

4 papers

NM_003587.5

p.N414D

c.1240A>G

1 paper

NM_003587.5

p.A411_A413del3

c.1231_1238del9

1 paper

NM_003587.5

p.I392S

c.1175T>G

7 papers

NM_003587.5

p.G427E

c.1280G>A

1 paper

NM_003587.5

p.E438A

c.1313A>C

5 papers

NM_003587.5

p.S378L

c.1133C>T

1 paper

NM_003587.5

p.G373D

c.1118G>A

1 paper

NM_003587.5

p.Q370*

c.1108C>T

1 paper

NM_003587.5

p.T362I

c.1085C>T

1 paper

NM_003587.5

p.K352R

c.1055A>G

1 paper

NM_003587.5

p.S348Y

c.1043C>A

1 paper

NM_003587.5

p.K340T

c.1019A>C