Varaico: Literature-Extracted Genetic Variants

Gene:DHX38
Variant:p.R173W

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.R173W
c.517C>T
Surrounding Variants
1 paper
NM_014003.4
p.E189G
c.566A>G
2 papers
NM_014003.4
p.R190H
c.569G>A
1 paper
NM_014003.4
p.R166H
c.497G>A
1 paper
NM_014003.4
p.R166C
c.496C>T
1 paper
NM_014003.4
p.D163Y
c.487G>T
1 paper
NM_014003.4
p.D153A
c.458A>C
1 paper
NM_014003.4
p.R137W
c.409C>T
1 paper
NM_014003.4
p.F128L
c.384T>A
1 paper
NM_014003.4
p.R114Q
c.341G>A
1 paper
NM_014003.4
p.R114W
c.340C>T
1 paper
NM_014003.4
p.Y110N
c.328T>A
1 paper
NM_014003.4
p.S213T
c.637T>A
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