Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.R294H

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.R294H
c.881G>A
Surrounding Variants
1 paper
NM_001348800.3
p.R294C
c.880C>T
1 paper
NM_001348800.3
p.H292Y
c.874C>T
1 paper
NM_001348800.3
p.T309T
c.927G>A
2 papers
NM_001348800.3
p.P315P
c.945C>G
1 paper
NM_001348800.3
p.R316L
c.947G>T
1 paper
NM_001348800.3
p.C250*
c.750C>A
1 paper
NM_001348800.3
p.Y339*
c.1017C>G
1 paper
NM_001348800.3
p.Y339*
c.1017C>A
1 paper
NM_001348800.3
p.Y248N
c.742T>A
3 papers
NM_001348800.3
p.Y340*
c.1020C>G
2 papers
NM_001348800.3
p.Y340*
c.1020C>A
3 papers
NM_001348800.3
p.Q342fs
c.1024_1025fs
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