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.S549R

c.1647C>A

Surrounding Variants

1 paper

NM_014003.4

p.S549R

c.1647C>G

1 paper

NM_014003.4

p.S549R

c.1645A>C

1 paper

NM_014003.4

p.V554A

c.1661T>C

1 paper

NM_014003.4

p.T562I

c.1685C>T

1 paper

NM_014003.4

p.T583I

c.1748C>T

1 paper

NM_014003.4

p.G603R

c.1807G>A

1 paper

NM_014003.4

p.G603R

c.1807G>C

1 paper

NM_014003.4

p.G603E

c.1808G>A

1 paper

NM_014003.4

p.V609_G610delFs

c.1825_1829del5

1 paper

NM_014003.4

p.V609fs

c.1825_1826fs

1 paper

NM_014003.4

p.Y627H

c.1879T>C

1 paper

NM_014003.4

p.D630D

c.1890C>T