Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.R116C

ZBTB20

135 papers

RefSeq Summary

This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bind...

Pfam Domains

BTBaa 94–197UCSCBTB/POZ domain
zf-C2H2aa 578–600UCSCZinc finger, C2H2 type
zf-C2H2aa 606–628UCSCZinc finger, C2H2 type
zf-C2H2aa 634–656UCSCZinc finger, C2H2 type
zf-C2H2aa 662–684UCSCZinc finger, C2H2 type
zf-C2H2aa 715–737UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger and BTB domain containing 20

HGNC Previous Symbol

ZNF288

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001348800.3
p.R116C
c.346C>T
Surrounding Variants
1 paper
NM_001348800.3
p.A117V
c.350C>T
1 paper
NM_001348800.3
p.G112fs
c.334_335fs
1 paper
NM_001348800.3
p.C120Y
c.359G>A
1 paper
NM_001348800.3
p.C104*
c.312T>A
1 paper
NM_001164343.2
p.D58fs
c.172_173fs
1 paper
NM_001348800.3
p.R100H
c.299G>A
1 paper
NM_001164343.2
p.D58_L60Fs
c.172_178delinsAAFs
1 paper
NM_001348800.3
p.R98C
c.292C>T
1 paper
NM_001348800.3
p.E96D
c.288G>T
1 paper
NM_001348800.3
p.E96D
c.288G>C
1 paper
NM_001348800.3
p.P143L
c.428C>T
1 paper
NM_001348800.3
p.S144L
c.431C>T
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