Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.V44A

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.V44A
c.131T>C
Surrounding Variants
1 paper
NM_004416.3
p.T43I
c.128C>T
1 paper
NM_004416.3
p.C45*
c.135C>A
2 papers
NM_004416.3
p.C45W
c.135C>G
2 papers
NM_004416.3
p.C45C
c.135C>T
1 paper
NM_004416.3
p.H46Q
c.138C>A
1 paper
NM_004416.3
p.H46Q
c.138C>G
1 paper
NM_004416.3
p.H47N
c.139C>A
1 paper
NM_004416.3
p.T41T
c.123G>C
1 paper
NM_004416.3
p.H47Q
c.141C>A
1 paper
NM_004416.3
p.H47Q
c.141C>G
1 paper
NM_004416.3
p.I48fs
c.142_143fs
1 paper
NM_004416.3
p.Y40*
c.120C>A
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