Varaico: Literature-Extracted Genetic Variants

Gene:DTX2
Variant:p.A187S

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.A187S
c.559G>T
Surrounding Variants
1 paper
NM_001102594.3
p.P188A
c.562C>G
1 paper
NM_001102594.3
p.P181P
c.543G>A
1 paper
NM_001102594.3
p.V194L
c.580G>C
1 paper
NM_001102594.3
p.F168F
c.504C>T
1 paper
NM_001102594.3
p.T207S
c.620C>G
1 paper
NM_001102594.3
p.P209P
c.627C>T
1 paper
NM_001102594.3
p.R213H
c.638G>A
1 paper
NM_001102594.3
p.V226A
c.677T>C
1 paper
NM_001102594.3
p.H229fs
c.685_686fs
1 paper
NM_001102594.3
p.P231fs
c.691_692fs
1 paper
NM_001102594.3
p.P231delFs
c.693delA
1 paper
NM_001102594.3
p.P231P
c.693A>C
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