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.D325A

c.974A>C

Surrounding Variants

6 papers

NM_014003.4

p.R324Q

c.971G>A

1 paper

NM_014003.4

p.R324L

c.971G>T

1 paper

NM_014003.4

p.M329I

c.987G>C

14 papers

NM_014003.4

p.G332D

c.995G>A

1 paper

NM_014003.4

p.D334Y

c.1000G>T

1 paper

NM_014003.4

p.N338S

c.1013A>G

1 paper

NM_014003.4

p.R351W

c.1051C>T

1 paper

NM_014003.4

p.R362H

c.1085G>A

1 paper

NM_014003.4

p.Q366P

c.1097A>C

1 paper

NM_014003.4

p.T308P

c.922A>C

2 papers

NM_014003.4

p.S305L

c.914C>T

2 papers

NM_014003.4

p.E301K

c.901G>A