Varaico: Literature-Extracted Genetic Variants

Gene:DTX3L
Variant:p.Q186H

DTX3L

56 papers

Pfam Domains

RRM_PARP14_1aa 11–87UCSCPAR14-like, first RRM domain
DTX3L_a-baa 138–199UCSCDTX3L, alpha/beta domain
KH_DTX3Laa 236–356UCSCDTX3L, KH-like domain
KH_DTX3Laa 378–505UCSCDTX3L, KH-like domain
zf-C3HC4_2aa 560–599UCSCZinc finger, C3HC4 type (RING finger)
DTCaa 607–739UCSCDeltex C-terminal domain

Gene Aliases

HGNC Name

deltex E3 ubiquitin ligase 3L

HGNC Alias Symbols

BBAP; RNF143

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138287.3
p.Q186H
c.558A>C
Surrounding Variants
1 paper
NM_138287.3
p.Q186H
c.558A>T
1 paper
NM_138287.3
p.C175Y
c.524G>A
1 paper
NM_138287.3
p.K198R
c.593A>G
1 paper
NM_138287.3
p.Q200H
c.600A>C
1 paper
NM_138287.3
p.Q200H
c.600A>T
1 paper
NM_138287.3
p.M205V
c.613A>G
3 papers
NM_138287.3
p.K209N
c.627G>C
3 papers
NM_138287.3
p.K209N
c.627G>T
1 paper
NM_138287.3
p.E150*
c.448G>T
1 paper
NM_138287.3
p.S233fs
c.697_698fs
1 paper
NM_138287.3
p.E237K
c.709G>A
1 paper
NM_138287.3
p.T280I
c.839C>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."