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.H1031delFs

c.3092delA

Surrounding Variants

1 paper

NM_014003.4

p.I1033T

c.3098T>C

1 paper

NM_014003.4

p.S1106F

c.3317C>T

1 paper

NM_014003.4

p.P1114T

c.3340C>A

1 paper

NM_014003.4

p.I983V

c.2947A>G

2 papers

NM_014003.4

p.S969F

c.2906C>T

1 paper

NM_014003.4

p.V961M

c.2881G>A

1 paper

NM_014003.4

p.L959P

c.2876T>C

1 paper

NM_014003.4

p.N935H

c.2803A>C

1 paper

NM_014003.4

p.L921L

c.2763C>G

1 paper

NM_014003.4

p.N893N

c.2679C>T

2 papers

NM_014003.4

p.A1142G

c.3425C>G

1 paper

NM_014003.4

p.L1144M

c.3430C>A