Varaico: Literature-Extracted Genetic Variants

BCL11B

362 papers

RefSeq Summary

This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene h...

Pfam Domains

CCHC_BCL-11Aaa 55–82UCSCBCL-11A-like CCHC zinc finger

zf-C2H2aa 427–449UCSCZinc finger, C2H2 type

zf-C2H2aa 455–477UCSCZinc finger, C2H2 type

zf-C2H2aa 796–818UCSCZinc finger, C2H2 type

zf-C2H2_16aa 824–848UCSCC2H2 zinc finger

zf-C2H2aa 854–877UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

BCL11 transcription factor B

HGNC Previous Symbol

ZNF856B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_138576.4

p.D534fs

c.1600_1601fs

Surrounding Variants

2 papers

NM_138576.4

p.D534delFs

c.1600delC

1 paper

NM_138576.4

p.D534E

c.1602C>G

1 paper

NM_138576.4

p.D534E

c.1602C>A

1 paper

NM_138576.4

p.E535D

c.1605G>T

1 paper

NM_138576.4

p.E535D

c.1605G>C

1 paper

NM_138576.4

p.E536D

c.1608G>T

1 paper

NM_138576.4

p.E536D

c.1608G>C

1 paper

NM_138576.4

p.E531K

c.1591G>A

1 paper

NM_138576.4

p.E529K

c.1585G>A

1 paper

NM_138576.4

p.G527S

c.1579G>A

1 paper

NM_138576.4

p.E543ins0

c.1627_1629dupGAG

9 papers

NM_138576.4

p.E543del1

c.1627_1628delCTC