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

Selected Variant

1 paper

NM_005180.9

p.T74delFs

c.221_222delCT

Surrounding Variants

1 paper

NM_005180.9

p.K73N

c.219A>C

1 paper

NM_005180.9

p.K73N

c.219A>T

3 papers

NM_005180.9

p.K73R

c.218A>G

1 paper

NM_005180.9

p.K73E

c.217A>G

1 paper

NM_005180.9

p.L75fs

c.223_224fs

1 paper

NM_005180.9

p.D77E

c.231T>A

1 paper

NM_005180.9

p.D77E

c.231T>G

1 paper

NM_005180.9

p.P84S

c.250C>T

1 paper

NM_005180.9

p.L86P

c.257T>C

1 paper

NM_005180.9

p.K88R

c.263A>G

1 paper

NM_005180.9

p.D96fs

c.286_287fs

1 paper

NM_005180.9

p.D96delFs

c.288delT