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.E754*

c.2260G>T

Surrounding Variants

1 paper

NM_014003.4

p.M747I

c.2241G>A

1 paper

NM_014003.4

p.M747I

c.2241G>C

1 paper

NM_014003.4

p.M747I

c.2241G>T

1 paper

NM_014003.4

p.S737L

c.2210C>T

1 paper

NM_014003.4

p.P719T

c.2155C>A

1 paper

NM_014003.4

p.V798I

c.2392G>A

1 paper

NM_014003.4

p.D822N

c.2464G>A

1 paper

NM_014003.4

p.F695L

c.2085T>A

1 paper

NM_014003.4

p.F695L

c.2085T>G

1 paper

NM_014003.4

p.F695L

c.2083T>C

1 paper

NM_014003.4

p.R675H

c.2024G>A

1 paper

NM_014003.4

p.R674Q

c.2021G>A