Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.E54D

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.E54D
c.162G>C
Surrounding Variants
1 paper
NM_004416.3
p.E54E
c.162G>A
3 papers
NM_004416.3
p.E54D
c.162G>T
1 paper
NM_004416.3
p.E54V
c.161A>T
1 paper
NM_004416.3
p.D55N
c.163G>A
1 paper
NM_004416.3
p.D55G
c.164A>G
1 paper
NM_004416.3
p.E54K
c.160G>A
2 papers
NM_004416.3
p.K53R
c.158A>G
2 papers
NM_004416.3
p.A56T
c.166G>A
2 papers
NM_004416.3
p.A56V
c.167C>T
1 paper
NM_004416.3
p.L52V
c.154C>G
1 paper
NM_004416.3
p.V51A
c.152T>C
3 papers
NM_004416.3
p.G58D
c.173G>A
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