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.C88Y

c.263G>A

Surrounding Variants

1 paper

NM_138576.4

p.C88_Y89insC

c.262_266ins3

1 paper

NM_138576.4

p.C88_Y89ins7

c.262_266ins21

1 paper

NM_138576.4

p.D90N

c.268G>A

1 paper

NM_138576.4

p.L85W

c.254T>G

1 paper

NM_138576.4

p.L85L

c.253T>C

1 paper

NM_138576.4

p.G83_S84del1

c.248_250delTGC

1 paper

NM_138576.4

p.G83fs

c.247_248fs

3 papers

NM_138576.4

p.C81delFs

c.242delC

12 papers

NM_138576.4

p.C81fs

c.241_242fs

1 paper

NM_138576.4

p.D96H

c.286G>C

1 paper

NM_138576.4

p.S97R

c.289A>C

1 paper

NM_138576.4

p.K79fs

c.235_236fs