Varaico: Literature-Extracted Genetic Variants

Gene:ZNF483

ZNF483

36 papers

Pfam Domains

SCANaa 48–137UCSCSCAN domain
KRABaa 169–210UCSCKRAB box
zf-C2H2aa 439–461UCSCZinc finger, C2H2 type
zf-C2H2aa 467–489UCSCZinc finger, C2H2 type
zf-C2H2aa 495–517UCSCZinc finger, C2H2 type
zf-C2H2aa 523–545UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 483

HGNC Alias Symbols

ZKSCAN16; KIAA1962; ZSCAN48

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
1 paper
NM_133464.5
p.E38V
c.113A>T
1 paper
NM_133464.5
p.G65R
c.193G>A
1 paper
NM_133464.5
p.G65R
c.193G>C
1 paper
NM_133464.5
p.A69Fs
c.206delinsCAFs
1 paper
NM_133464.5
p.T87M
c.260C>T
1 paper
NM_133464.5
p.E135K
c.403G>A
1 paper
NM_133464.5
p.V158V
c.474C>A
1 paper
NM_133464.5
p.L200R
c.599T>G
1 paper
NM_133464.5
p.R239Q
c.716G>A
1 paper
NM_133464.5
p.Q265R
c.794A>G
1 paper
NM_133464.5
p.R284T
c.851G>C
1 paper
NM_133464.5
p.S295R
c.883A>C
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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."