Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.L617S

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
4 papers
NM_001348800.3
p.L617S
c.1850T>C
Surrounding Variants
1 paper
NM_001348800.3
p.F615_S616del2
c.1843_1847del6
6 papers
NM_001348800.3
p.S616F
c.1847C>T
1 paper
NM_001348800.3
p.F615del1
c.1843_1844delGAA
1 paper
NM_001348800.3
p.D619delFs
c.1857delA
9 papers
NM_001348800.3
p.L621F
c.1861C>T
3 papers
NM_001348800.3
p.L621P
c.1862T>C
7 papers
NM_001348800.3
p.R613C
c.1837C>T
1 paper
NM_001348800.3
p.K623E
c.1867A>G
1 paper
NM_001348800.3
p.C611S
c.1832G>C
4 papers
NM_001348800.3
p.C611Y
c.1832G>A
1 paper
NM_001348800.3
p.C611S
c.1831T>A
4 papers
NM_001348800.3
p.K623N
c.1869G>T
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