Varaico: Literature-Extracted Genetic Variants

Gene:DTX2
Variant:p.G315G

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
Selected Variant
1 paper
NM_001102594.3
p.G315G
c.945G>T
Surrounding Variants
2 papers
NM_001102594.3
p.G337D
c.1010G>A
6 papers
NM_001102594.3
p.R365C
c.1093C>T
1 paper
NM_001102594.3
p.S373_V374delins
c.1119_1120delinsTG
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.S282F
c.845C>T
1 paper
NM_001102594.3
p.G268G
c.804C>T
2 papers
NM_001102594.3
p.G268D
c.803G>A
1 paper
NM_001102594.3
p.N265N
c.795C>T
2 papers
NM_001102594.3
p.T264T
c.792C>G
3 papers
NM_001102594.3
p.N248S
c.743A>G
1 paper
NM_001102594.3
p.H232fs
c.694_695fs
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