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

Selected Variant

1 paper

NM_014003.4

p.E14D

c.42A>C

Surrounding Variants

1 paper

NM_014003.4

p.D17G

c.50A>G

1 paper

NM_014003.4

p.R12_Q21del10

c.34_62del30

1 paper

NM_014003.4

p.D19N

c.55G>A

1 paper

NM_014003.4

p.D19H

c.55G>C

1 paper

NM_014003.4

p.I10L

c.28A>C

1 paper

NM_014003.4

p.D19A

c.56A>C

1 paper

NM_014003.4

p.D19G

c.56A>G

1 paper

NM_014003.4

p.V22V

c.66T>A

1 paper

NM_014003.4

p.G23G

c.69T>C

1 paper

NM_014003.4

p.T4_D7delFs

c.12_21del10

2 papers

NM_014003.4

p.G2E

c.5G>A

1 paper

NM_014003.4

p.A32S

c.94G>T