Varaico: Literature-Extracted Genetic Variants

Gene:DZIP3
Variant:p.K674N

DZIP3

55 papers

Pfam Domains

TTC3_DZIP3_domaa 223–336UCSCE3 ubiquitin-protein ligase TTC3/DZIP3 domain
HEPN_DZIP3aa 418–563UCSCDZIP3/ hRUL138-like HEPN
TTC3aa 765–957UCSCTTC3, helical domain
TTC3_9thaa 1033–1092UCSCTTC3, helical domain
zf-RING_2aa 1146–1188UCSCRing finger domain

Gene Aliases

HGNC Name

DAZ interacting zinc finger protein 3

HGNC Alias Symbols

hRUL138; PPP1R66

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014648.4
p.K674N
c.2022A>C
Surrounding Variants
1 paper
NM_014648.4
p.K674N
c.2022A>T
1 paper
NM_014648.4
p.I702ins1
c.2104_2105insTGT
1 paper
NM_014648.4
p.K703insFs
c.2107_2108ins4
1 paper
NM_014648.4
p.D705insFs
c.2113_2114ins4
1 paper
NM_014648.4
p.E643K
c.1927G>A
1 paper
NM_014648.4
p.E627D
c.1881G>C
1 paper
NM_014648.4
p.E627D
c.1881G>T
1 paper
NM_014648.4
p.C583*
c.1749C>A
1 paper
NM_014648.4
p.E556G
c.1667A>G
1 paper
NM_014648.4
p.I474T
c.1421T>C
1 paper
NM_014648.4
p.K475delFs
c.1425delA
1 paper
NM_014648.4
p.T441T
c.1323C>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."