Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.Q158L

DTX1

150 papers

RefSeq Summary

Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in ba...

Pfam Domains

WWEaa 26–94UCSCWWE domain
WWEaa 107–171UCSCWWE domain
DTCaa 479–613UCSCDeltex C-terminal domain

Gene Aliases

HGNC Name

deltex E3 ubiquitin ligase 1

HGNC Alias Symbols

hDx-1; RNF140

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004416.3
p.Q158L
c.473A>T
Surrounding Variants
1 paper
NM_004416.3
p.Q158*
c.472C>T
1 paper
NM_004416.3
p.N154Y
c.460A>T
1 paper
NM_004416.3
p.R165_L169del0
c.494_505del12
1 paper
NM_004416.3
p.R164H
c.491G>A
1 paper
NM_004416.3
p.R165W
c.493C>T
1 paper
NM_004416.3
p.R166H
c.497G>A
1 paper
NM_004416.3
p.L150R
c.449T>G
2 papers
NM_004416.3
p.R168H
c.503G>A
1 paper
NM_004416.3
p.S143L
c.428C>T
2 papers
NM_004416.3
p.P138L
c.413C>T
1 paper
NM_004416.3
p.Q136L
c.407A>T
1 paper
NM_004416.3
p.T180T
c.540C>A
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