Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.R376C

DDX3X

580 papers

RefSeq Summary

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase act...

Pfam Domains

DEADaa 204–392UCSCDEAD/DEAH box helicase
Helicase_Caa 426–536UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

DEAD-box helicase 3 X-linked

HGNC Alias Symbols

HLP2; DDX14; CAP-Rf

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
22 papers
NM_001356.5
p.R376C
c.1126C>T
Surrounding Variants
2 papers
NM_001356.5
p.R376S
c.1126C>A
5 papers
NM_001356.5
p.R376H
c.1127G>A
1 paper
NM_001356.5
p.R376P
c.1127G>C
1 paper
NM_001356.5
p.T378A
c.1132A>G
4 papers
NM_001356.5
p.M380del1
c.1138_1139delATG
1 paper
NM_001356.5
p.K373fs
c.1117_1118fs
1 paper
NM_001356.5
p.M379V
c.1135A>G
1 paper
NM_001356.5
p.K373*
c.1117A>T
1 paper
NM_001356.5
p.M379T
c.1136T>C
1 paper
NM_001356.5
p.K373delFs
c.1118delA
2 papers
NM_001356.5
p.M379I
c.1137G>A
2 papers
NM_001356.5
p.M379I
c.1137G>C
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