Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.L76R

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.L76R
c.227T>G
Surrounding Variants
1 paper
NM_004416.3
p.Q77E
c.229C>G
2 papers
NM_004416.3
p.Q77*
c.229C>T
1 paper
NM_004416.3
p.D75A
c.224A>C
1 paper
NM_004416.3
p.D75N
c.223G>A
1 paper
NM_004416.3
p.S78F
c.233C>T
1 paper
NM_004416.3
p.I74N
c.221T>A
1 paper
NM_004416.3
p.I74T
c.221T>C
1 paper
NM_004416.3
p.I74S
c.221T>G
1 paper
NM_004416.3
p.M79L
c.235A>C
1 paper
NM_004416.3
p.M79L
c.235A>T
1 paper
NM_004416.3
p.I73M
c.219C>G
3 papers
NM_004416.3
p.M79T
c.236T>C
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