Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.M487I

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.M487I
c.1461G>A
Surrounding Variants
1 paper
NM_004416.3
p.M487I
c.1461G>C
1 paper
NM_004416.3
p.M487I
c.1461G>T
1 paper
NM_004416.3
p.H494Y
c.1480C>T
1 paper
NM_004416.3
p.H494fs
c.1480_1481fs
1 paper
NM_004416.3
p.S495L
c.1484C>T
1 paper
NM_004416.3
p.T479A
c.1435A>G
1 paper
NM_004416.3
p.K478M
c.1433A>T
1 paper
NM_004416.3
p.E477E
c.1431G>A
1 paper
NM_004416.3
p.E477K
c.1429G>A
1 paper
NM_004416.3
p.A473T
c.1417G>A
1 paper
NM_004416.3
p.R506C
c.1516C>T
1 paper
NM_004416.3
p.R506H
c.1517G>A
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