Varaico: Literature-Extracted Genetic Variants

Gene:ZNF683
Variant:p.R35*

ZNF683

49 papers

Pfam Domains

zf-C2H2aa 322–344UCSCZinc finger, C2H2 type
zf-C2H2aa 350–372UCSCZinc finger, C2H2 type
zf-C2H2aa 401–420UCSCZinc finger, C2H2 type
zf-C2H2aa 401–420UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 683

HGNC Alias Symbols

MGC33414; Hobit

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114759.3
p.R35*
c.103C>T
Surrounding Variants
1 paper
NM_001114759.3
p.G36R
c.106G>C
1 paper
NM_001114759.3
p.P15L
c.44C>T
1 paper
NM_001114759.3
p.A7V
c.20C>T
1 paper
NM_001114759.3
p.A42D
c.125C>A
1 paper
NM_001114759.3
p.P47fs
c.139_140fs
6 papers
NM_001114759.3
p.D48G
c.143A>G
1 paper
NM_001114759.3
p.D48E
c.144C>G
5 papers
NM_001114759.3
p.H53R
c.158A>G
1 paper
NM_001114759.3
p.C76F
c.227G>T
1 paper
NM_001114759.3
p.L77V
c.229C>G
1 paper
NM_001114759.3
p.Q78H
c.234G>T
1 paper
NM_001114759.3
p.Q78H
c.234G>C
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