Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.Q20H

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.Q20H
c.60G>T
Surrounding Variants
1 paper
NM_004416.3
p.Q20H
c.60G>C
1 paper
NM_004416.3
p.N21T
c.62A>C
1 paper
NM_004416.3
p.N21S
c.62A>G
1 paper
NM_004416.3
p.N21N
c.63C>T
1 paper
NM_004416.3
p.V22A
c.65T>C
1 paper
NM_004416.3
p.P18P
c.54A>G
1 paper
NM_004416.3
p.A23fs
c.67_68fs
3 papers
NM_004416.3
p.P18S
c.52C>T
1 paper
NM_004416.3
p.F17L
c.51C>A
1 paper
NM_004416.3
p.F17L
c.51C>G
1 paper
NM_004416.3
p.R24W
c.70C>T
1 paper
NM_004416.3
p.F17Y
c.50T>A
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