Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.R248ins10

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.R248ins10
c.742_743ins30
Surrounding Variants
1 paper
NM_004416.3
p.P238del1
c.712_713delCCT
1 paper
NM_004416.3
p.P237L
c.710C>T
1 paper
NM_004416.3
p.A251D
c.752C>A
1 paper
NM_004416.3
p.T252P
c.754A>C
6 papers
NM_004416.3
p.P234L
c.701C>T
1 paper
NM_004416.3
p.L232_P233del1
c.696_698delGCC
1 paper
NM_004416.3
p.P228L
c.683C>T
1 paper
NM_004416.3
p.A226A
c.678G>C
1 paper
NM_004416.3
p.S221P
c.661T>C
1 paper
NM_004416.3
p.N216T
c.647A>C
1 paper
NM_004416.3
p.G274V
c.821G>T
1 paper
NM_004416.3
p.P277Fs
c.831delinsGGFs
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