Varaico: Literature-Extracted Genetic Variants

Gene:ZBTB20
Variant:p.R350H

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.R350H
c.1049G>A
Surrounding Variants
1 paper
NM_001348800.3
p.Q346insFs
c.1038dupG
1 paper
NM_001348800.3
p.Q342fs
c.1024_1025fs
2 papers
NM_001348800.3
p.Q342delFs
c.1024delG
3 papers
NM_001348800.3
p.Q342fs
c.1024_1025fs
1 paper
NM_001348800.3
p.D359E
c.1077C>G
1 paper
NM_001348800.3
p.D359E
c.1077C>A
3 papers
NM_001348800.3
p.Y340*
c.1020C>G
2 papers
NM_001348800.3
p.Y340*
c.1020C>A
1 paper
NM_001348800.3
p.D361Y
c.1081G>T
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.E364K
c.1090G>A
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