Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.W28*

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
3 papers
NM_004416.3
p.W28*
c.84G>A
Surrounding Variants
3 papers
NM_004416.3
p.W28*
c.83G>A
4 papers
NM_004416.3
p.E29G
c.86A>G
1 paper
NM_004416.3
p.W28R
c.82T>A
1 paper
NM_004416.3
p.W28G
c.82T>G
1 paper
NM_004416.3
p.V27V
c.81G>A
1 paper
NM_004416.3
p.E29D
c.87G>C
1 paper
NM_004416.3
p.V27E
c.80T>A
6 papers
NM_004416.3
p.W30*
c.89G>A
1 paper
NM_004416.3
p.V27M
c.79G>A
6 papers
NM_004416.3
p.W30*
c.90G>A
3 papers
NM_004416.3
p.W30C
c.90G>C
2 papers
NM_004416.3
p.W30C
c.90G>T
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