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.P725H

c.2174C>A

Surrounding Variants

1 paper

NM_138576.4

p.F726_L727insCG

c.2176_2180ins6

3 papers

NM_138576.4

p.F726_L727ins8

c.2176_2180ins24

1 paper

NM_138576.4

p.F721_K723del3

c.2161_2168del9

1 paper

NM_138576.4

p.G728G

c.2184C>A

1 paper

NM_138576.4

p.D731N

c.2191G>A

2 papers

NM_138576.4

p.D731fs

c.2191_2192fs

1 paper

NM_138576.4

p.S718_R719insFs

c.2154_2155ins11

1 paper

NM_138576.4

p.A717A

c.2151G>A

2 papers

NM_138576.4

p.A716V

c.2147C>T

4 papers

NM_138576.4

p.T730_Q734delFs

c.2190_2200del11

1 paper

NM_138576.4

p.A716T

c.2146G>A

1 paper

NM_138576.4

p.G714A

c.2141G>C