Varaico: Literature-Extracted Genetic Variants

DHX38

171 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 535–695UCSCDEAD/DEAH box helicase

Helicase_Caa 725–861UCSCHelicase conserved C-terminal domain

WHD_HA2aa 923–951UCSCHelicase associated domain (HA2), winged-helix

HA2_Caa 952–1011UCSCHelicase associated domain (HA2), ratchet-like

OB_NTP_bindaa 1069–1148UCSCOligonucleotide/oligosaccharide-binding (OB)-fold

Gene Aliases

HGNC Name

DEAH-box helicase 38

HGNC Previous Symbol

DDX38

Papers

RefSeq ID

Protein change

DNA change

1–12 of 154 variants

14 papers

NM_014003.4

p.G332D

c.995G>A

6 papers

NM_014003.4

p.R324Q

c.971G>A

6 papers

NM_014003.4

p.T1221M

c.3662C>T

3 papers

NM_014003.4

p.T492M

c.1475C>T

2 papers

NM_014003.4

p.G2E

c.5G>A

2 papers

NM_014003.4

p.R190H

c.569G>A

2 papers

NM_014003.4

p.E301K

c.901G>A

2 papers

NM_014003.4

p.S305L

c.914C>T

2 papers

NM_014003.4

p.E392G

c.1175A>G

2 papers

NM_014003.4

p.S969F

c.2906C>T

2 papers

NM_014003.4

p.A1142G

c.3425C>G

1 paper

NM_014003.4

p.T4_D7delFs

c.12_21del10