Varaico: Literature-Extracted Genetic Variants

Gene:DTX2

DTX2

70 papers

RefSeq Summary

DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009].

Pfam Domains

WWEaa 20–97UCSCWWE domain
WWEaa 110–174UCSCWWE domain
DTCaa 480–614UCSCDeltex C-terminal domain

Gene Aliases

HGNC Name

deltex E3 ubiquitin ligase 2

HGNC Alias Symbols

RNF58; KIAA1528

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
6 papers
NM_001102594.3
p.R365C
c.1093C>T
3 papers
NM_001102594.3
p.M92T
c.275T>C
3 papers
NM_001102594.3
p.N248S
c.743A>G
2 papers
NM_001102594.3
p.A2V
c.5C>T
2 papers
NM_001102594.3
p.S127G
c.379A>G
2 papers
NM_001102594.3
p.T264T
c.792C>G
2 papers
NM_001102594.3
p.G268D
c.803G>A
2 papers
NM_001102594.3
p.G337D
c.1010G>A
2 papers
NM_001102594.3
p.G384E
c.1151G>A
2 papers
NM_001102594.3
p.G384E
c.1151G>A
1 paper
NM_001102594.3
p.A20T
c.58G>A
1 paper
NM_001102594.3
p.G27W
c.79G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."