Varaico: Literature-Extracted Genetic Variants

Gene:DTX1
Variant:p.V70G

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.V70G
c.209T>G
Surrounding Variants
1 paper
NM_004416.3
p.V70M
c.208G>A
1 paper
NM_004416.3
p.P71A
c.211C>G
5 papers
NM_004416.3
p.P71S
c.211C>T
1 paper
NM_004416.3
p.L69insFs
c.206_207insG
1 paper
NM_004416.3
p.L69I
c.205C>A
1 paper
NM_004416.3
p.L69fs
c.205_206fs
1 paper
NM_004416.3
p.L69insFs
c.206dupT
2 papers
NM_004416.3
p.L69V
c.205C>G
1 paper
NM_004416.3
p.L69F
c.205C>T
6 papers
NM_004416.3
p.Q68H
c.204G>C
5 papers
NM_004416.3
p.Q68H
c.204G>T
1 paper
NM_004416.3
p.Y72H
c.214T>C
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