Varaico: Literature-Extracted Genetic Variants

BMI1

93 papers

RefSeq Summary

This gene encodes a ring finger protein that is major component of the polycomb group complex 1 (PRC1). This complex functions through chromatin remodeling as an essential epigenetic repressor of mult...

Pfam Domains

zf-C3HC4_2aa 17–56UCSCZinc finger, C3HC4 type (RING finger)

RAWULaa 162–226UCSCRAWUL domain RING finger- and WD40-associated ubiquitin-like

Gene Aliases

HGNC Name

BMI1 proto-oncogene, polycomb ring finger

HGNC Previous Symbol

PCGF4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 49 variants

3 papers

NM_005180.9

p.K73R

c.218A>G

2 papers

NM_005180.9

p.C18Y

c.53G>A

1 paper

NM_005180.9

p.T4A

c.10A>G

1 paper

NM_005180.9

p.T5T

c.15G>A

1 paper

NM_005180.9

p.G22V

c.65G>T

1 paper

NM_005180.9

p.E33A

c.98A>C

1 paper

NM_005180.9

p.H36H

c.108T>C

1 paper

NM_005180.9

p.S37Y

c.110C>A

1 paper

NM_005180.9

p.T49I

c.146C>T

1 paper

NM_005180.9

p.Q59E

c.175C>G

1 paper

NM_005180.9

p.H61N

c.181C>A

1 paper

NM_005180.9

p.H61R

c.182A>G