Varaico: Literature-Extracted Genetic Variants

Gene:ZNF483
Variant:p.S295R

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
Selected Variant
1 paper
NM_133464.5
p.S295R
c.885T>A
Surrounding Variants
1 paper
NM_133464.5
p.S295R
c.885T>G
1 paper
NM_133464.5
p.S295R
c.883A>C
1 paper
NM_133464.5
p.P302T
c.904C>A
1 paper
NM_133464.5
p.R284T
c.851G>C
1 paper
NM_133464.5
p.L317V
c.949T>G
1 paper
NM_133464.5
p.Q265R
c.794A>G
1 paper
NM_133464.5
p.H370D
c.1108C>G
1 paper
NM_133464.5
p.S372L
c.1115C>T
1 paper
NM_133464.5
p.H384N
c.1150C>A
1 paper
NM_133464.5
p.G386V
c.1157G>T
1 paper
NM_133464.5
p.R417W
c.1249C>T
1 paper
NM_133464.5
p.E430K
c.1288G>A
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