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.G863A

c.2588G>C

Surrounding Variants

1 paper

NM_014003.4

p.G863del1

c.2587_2588delGGT

1 paper

NM_014003.4

p.G861G

c.2583C>T

1 paper

NM_014003.4

p.T860T

c.2580G>A

1 paper

NM_014003.4

p.A857A

c.2571C>T

1 paper

NM_014003.4

p.S854*

c.2561C>A

1 paper

NM_014003.4

p.S854*

c.2561C>G

1 paper

NM_014003.4

p.I842T

c.2525T>C

1 paper

NM_014003.4

p.P833S

c.2497C>T

1 paper

NM_014003.4

p.D822N

c.2464G>A

1 paper

NM_014003.4

p.V798I

c.2392G>A

1 paper

NM_014003.4

p.E754*

c.2260G>T

1 paper

NM_014003.4

p.M747I

c.2241G>A