Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.L9V

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.L9V
c.25C>G
Surrounding Variants
1 paper
NM_004416.3
p.M10L
c.28A>C
1 paper
NM_004416.3
p.M10L
c.28A>T
1 paper
NM_004416.3
p.M10K
c.29T>A
1 paper
NM_004416.3
p.M10T
c.29T>C
1 paper
NM_004416.3
p.P11fs
c.31_32fs
3 papers
NM_004416.3
p.P11S
c.31C>T
1 paper
NM_004416.3
p.G7R
c.19G>C
2 papers
NM_004416.3
p.G5D
c.14G>A
1 paper
NM_004416.3
p.N13D
c.37A>G
1 paper
NM_004416.3
p.N13T
c.38A>C
2 papers
NM_004416.3
p.N13S
c.38A>G
1 paper
NM_004416.3
p.L15fs
c.43_44fs
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