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.R244Q

c.731G>A

Surrounding Variants

1 paper

NM_014003.4

p.S242C

c.725C>G

1 paper

NM_014003.4

p.R247W

c.739C>T

1 paper

NM_014003.4

p.R247Q

c.740G>A

1 paper

NM_014003.4

p.S234F

c.701C>T

1 paper

NM_014003.4

p.S232S

c.696G>A

1 paper

NM_014003.4

p.E231K

c.691G>A

1 paper

NM_014003.4

p.R255Splc

c.764+16G>C

1 paper

NM_014003.4

p.S228A

c.682T>G

1 paper

NM_014003.4

p.G223S

c.667G>A

1 paper

NM_014003.4

p.D219V

c.656A>T

1 paper

NM_014003.4

p.D219N

c.655G>A

1 paper

NM_014003.4

p.E216A

c.647A>C