Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.R518fs

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
11 papers
NM_138576.4
p.R518fs
c.1552_1553fs
Surrounding Variants
3 papers
NM_138576.4
p.R518delFs
c.1552delG
1 paper
NM_138576.4
p.D516N
c.1546G>A
1 paper
NM_138576.4
p.E521K
c.1561G>A
1 paper
NM_138576.4
p.G515S
c.1543G>A
1 paper
NM_138576.4
p.A512delFs
c.1535_1536delCG
1 paper
NM_138576.4
p.A512A
c.1536G>A
1 paper
NM_138576.4
p.L510Fs
c.1530delinsGCFs
1 paper
NM_138576.4
p.G509Fs
c.1527delinsGCFs
1 paper
NM_138576.4
p.G527S
c.1579G>A
1 paper
NM_138576.4
p.E508G
c.1523A>G
1 paper
NM_022898.3
p.G436G
c.1308C>T
1 paper
NM_138576.4
p.E529K
c.1585G>A
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