Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.R36H

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
2 papers
NM_004416.3
p.R36H
c.107G>A
Surrounding Variants
1 paper
NM_004416.3
p.R36R
c.108C>T
2 papers
NM_004416.3
p.W37*
c.110G>A
2 papers
NM_004416.3
p.W37*
c.111G>A
1 paper
NM_004416.3
p.H34N
c.100C>A
1 paper
NM_004416.3
p.H34D
c.100C>G
3 papers
NM_004416.3
p.H34Y
c.100C>T
1 paper
NM_004416.3
p.R38R
c.114G>A
1 paper
NM_004416.3
p.P39T
c.115C>A
1 paper
NM_004416.3
p.P39A
c.115C>G
1 paper
NM_004416.3
p.P39S
c.115C>T
1 paper
NM_004416.3
p.E33E
c.99G>A
5 papers
NM_004416.3
p.E33D
c.99G>C
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