Varaico: Literature-Extracted Genetic Variants

Gene:ZNF683
Variant:p.Q114E

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.Q114E
c.340C>G
Surrounding Variants
1 paper
NM_001114759.3
p.G112fs
c.334_335fs
1 paper
NM_001114759.3
p.P111P
c.333A>G
1 paper
NM_001114759.3
p.D132H
c.394G>C
1 paper
NM_001114759.3
p.G142S
c.424G>A
1 paper
NM_001114759.3
p.A145G
c.434C>G
1 paper
NM_001114759.3
p.P212R
c.635C>G
1 paper
NM_001114759.3
p.W250_E251insFs
c.750_751ins8
4 papers
NM_001114759.3
p.E242_W250del0
c.726_749del24
1 paper
NM_001114759.3
p.E251fs
c.751_752fs
1 paper
NM_001114759.3
p.A259T
c.775G>A
1 paper
NM_001114759.3
p.A262T
c.784G>A
1 paper
NM_001114759.3
p.Q265*
c.793C>T
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