Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.D114ins4

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
1 paper
NM_004416.3
p.D114ins4
c.341_342ins12
Surrounding Variants
1 paper
NM_004416.3
p.D114N
c.340G>A
1 paper
NM_004416.3
p.N113N
c.339C>T
1 paper
NM_004416.3
p.G115S
c.343G>A
1 paper
NM_004416.3
p.G115D
c.344G>A
1 paper
NM_004416.3
p.G116S
c.346G>A
1 paper
NM_004416.3
p.W111G
c.331T>G
1 paper
NM_004416.3
p.W118fs
c.352_353fs
1 paper
NM_004416.3
p.T119M
c.356C>T
1 paper
NM_004416.3
p.V108V
c.324G>A
1 paper
NM_004416.3
p.V108G
c.323T>G
1 paper
NM_004416.3
p.A120A
c.360C>A
1 paper
NM_004416.3
p.V108M
c.322G>A
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