Varaico: Literature-Extracted Genetic Variants

Gene:DZIP3
Variant:p.K387N

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.K387N
c.1161G>T
Surrounding Variants
1 paper
NM_014648.4
p.K387N
c.1161G>C
1 paper
NM_014648.4
p.T405I
c.1214C>T
1 paper
NM_014648.4
p.P418H
c.1253C>A
1 paper
NM_014648.4
p.T441T
c.1323C>T
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.E556G
c.1667A>G
1 paper
NM_014648.4
p.C583*
c.1749C>A
1 paper
NM_014648.4
p.I369V
c.1105A>G
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.E643K
c.1927G>A
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