Varaico: Literature-Extracted Genetic Variants

Gene:DTX3L
Variant:p.E340K

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.E340K
c.1018G>A
Surrounding Variants
1 paper
NM_138287.3
p.D349N
c.1045G>A
1 paper
NM_138287.3
p.A353S
c.1057G>T
1 paper
NM_138287.3
p.Q307K
c.919C>A
1 paper
NM_138287.3
p.E297A
c.890A>C
1 paper
NM_138287.3
p.R291S
c.871C>A
1 paper
NM_138287.3
p.E398*
c.1192G>T
1 paper
NM_138287.3
p.S281S
c.843A>T
1 paper
NM_138287.3
p.T280I
c.839C>T
1 paper
NM_138287.3
p.R425K
c.1274G>A
1 paper
NM_138287.3
p.S430P
c.1288T>C
2 papers
NM_138287.3
p.A435V
c.1304C>T
1 paper
NM_138287.3
p.E237K
c.709G>A
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