Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.C341R

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
3 papers
NM_001356.5
p.C341R
c.1021T>C
Surrounding Variants
1 paper
NM_001356.5
p.C341G
c.1021T>G
1 paper
NM_001356.5
p.C341fs
c.1021_1022fs
3 papers
NM_001356.5
p.C341Y
c.1022G>A
1 paper
NM_001356.5
p.C341insFs
c.1023dupC
1 paper
NM_001356.5
p.C341F
c.1022G>T
1 paper
NM_001356.5
p.C341C
c.1023C>T
1 paper
NM_001356.5
p.K342*
c.1024A>T
1 paper
NM_001356.5
p.K342fs
c.1024_1025fs
2 papers
NM_001356.5
p.K342Splc
c.1025+1G>A
1 paper
NM_001356.5
p.D339N
c.1015G>A
1 paper
NM_001356.5
p.D339H
c.1015G>C
1 paper
NM_001356.5
p.L338S
c.1013T>C
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