Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.G16A

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.G16A
c.47G>C
Surrounding Variants
2 papers
NM_004416.3
p.G16D
c.47G>A
1 paper
NM_004416.3
p.F17delFs
c.50delT
1 paper
NM_004416.3
p.F17L
c.49T>C
1 paper
NM_004416.3
p.F17Y
c.50T>A
1 paper
NM_004416.3
p.F17L
c.51C>A
1 paper
NM_004416.3
p.L15fs
c.43_44fs
1 paper
NM_004416.3
p.F17L
c.51C>G
3 papers
NM_004416.3
p.P18S
c.52C>T
1 paper
NM_004416.3
p.P18P
c.54A>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.N13D
c.37A>G
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