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

1 paper

NM_138576.4

p.E508G

c.1523A>G

Surrounding Variants

1 paper

NM_022898.3

p.G436G

c.1308C>T

1 paper

NM_138576.4

p.G507S

c.1519G>A

1 paper

NM_138576.4

p.G509Fs

c.1527delinsGCFs

1 paper

NM_138576.4

p.L510Fs

c.1530delinsGCFs

1 paper

NM_138576.4

p.A512A

c.1536G>A

1 paper

NM_138576.4

p.E504K

c.1510G>A

1 paper

NM_138576.4

p.A512delFs

c.1535_1536delCG

9 papers

NM_138576.4

p.T502fs

c.1504_1505fs

1 paper

NM_138576.4

p.G515S

c.1543G>A

1 paper

NM_138576.4

p.G501G

c.1503C>T

2 papers

NM_138576.4

p.G501insFs

c.1502dupG

1 paper

NM_138576.4

p.P500insFs

c.1500dupC