Varaico: Literature-Extracted Genetic Variants

Gene:ZNF483
Variant:p.H629H

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.H629H
c.1887T>C
Surrounding Variants
1 paper
NM_133464.5
p.P662P
c.1986T>C
1 paper
NM_133464.5
p.G582S
c.1744G>A
1 paper
NM_133464.5
p.R683*
c.2047C>T
1 paper
NM_133464.5
p.E688D
c.2064G>C
1 paper
NM_133464.5
p.E688D
c.2064G>T
1 paper
NM_133464.5
p.H709H
c.2127C>T
1 paper
NM_133464.5
p.E723*
c.2167G>T
1 paper
NM_133464.5
p.E725K
c.2173G>A
1 paper
NM_133464.5
p.H486H
c.1458T>C
1 paper
NM_133464.5
p.K456T
c.1367A>C
1 paper
NM_133464.5
p.A452V
c.1355C>T
1 paper
NM_133464.5
p.G445G
c.1335A>G
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