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

6 papers

NM_014003.4

p.T1221M

c.3662C>T

Surrounding Variants

1 paper

NM_014003.4

p.P1218L

c.3653C>T

1 paper

NM_014003.4

p.T1217A

c.3649A>G

1 paper

NM_014003.4

p.G1226C

c.3676G>T

1 paper

NM_014003.4

p.P1207Q

c.3620C>A

1 paper

NM_014003.4

p.E1174K

c.3520G>A

1 paper

NM_014003.4

p.M1172T

c.3515T>C

1 paper

NM_014003.4

p.R1164W

c.3490C>T

1 paper

NM_014003.4

p.Q1159_E1160Splc

c.3477+2T>G

1 paper

NM_014003.4

p.R1158R

c.3474G>C

1 paper

NM_014003.4

p.R1158W

c.3472C>T

1 paper

NM_014003.4

p.L1144M

c.3430C>A

2 papers

NM_014003.4

p.A1142G

c.3425C>G