Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.L206_L207insG

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.L206_L207insG
c.616_620ins3
Surrounding Variants
1 paper
NM_004416.3
p.C205G
c.613T>G
1 paper
NM_004416.3
p.V208A
c.623T>C
1 paper
NM_004416.3
p.S201F
c.602C>T
1 paper
NM_004416.3
p.N216T
c.647A>C
1 paper
NM_004416.3
p.S221P
c.661T>C
1 paper
NM_004416.3
p.A226A
c.678G>C
1 paper
NM_004416.3
p.P228L
c.683C>T
1 paper
NM_004416.3
p.V181A
c.542T>C
1 paper
NM_004416.3
p.V181M
c.541G>A
1 paper
NM_004416.3
p.T180T
c.540C>A
1 paper
NM_004416.3
p.L232_P233del1
c.696_698delGCC
6 papers
NM_004416.3
p.P234L
c.701C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."