Varaico: Literature-Extracted Genetic Variants

Gene:DDX3X
Variant:p.L461S

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
1 paper
NM_001356.5
p.L461S
c.1382T>C
Surrounding Variants
2 papers
NM_001356.5
p.L461*
c.1382T>A
1 paper
NM_001356.5
p.L461*
c.1382T>G
4 papers
NM_001356.5
p.L461insFs
c.1383dupA
1 paper
NM_001356.5
p.L461F
c.1383A>C
1 paper
NM_001356.5
p.L461F
c.1383A>T
3 papers
NM_001356.5
p.Y462insFs
c.1384_1385dupTA
2 papers
NM_001356.5
p.F460L
c.1380C>A
2 papers
NM_001356.5
p.F460L
c.1380C>G
3 papers
NM_001356.5
p.Y462fs
c.1384_1385fs
3 papers
NM_001356.5
p.Y462*
c.1386C>A
3 papers
NM_001356.5
p.Y462*
c.1386C>G
1 paper
NM_001356.5
p.F460I
c.1378T>A
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