Varaico: Literature-Extracted Genetic Variants

Gene:BCL11B
Variant:p.P397S

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.P397S
c.1189C>T
Surrounding Variants
4 papers
NM_138576.4
p.Q396*
c.1186C>T
6 papers
NM_138576.4
p.S398fs
c.1192_1193fs
1 paper
NM_138576.4
p.F395L
c.1185C>G
1 paper
NM_138576.4
p.F395L
c.1185C>A
1 paper
NM_138576.4
p.F395L
c.1183T>C
1 paper
NM_138576.4
p.P399L
c.1196C>T
1 paper
NM_138576.4
p.P394L
c.1181C>T
3 papers
NM_138576.4
p.S398_P399delFs
c.1192_1196del5
1 paper
NM_138576.4
p.L392_N393insFs
c.1176_1179dup4
1 paper
NM_138576.4
p.P394fs
c.1180_1181fs
1 paper
NM_138576.4
p.L391fs
c.1171_1172fs
3 papers
NM_138576.4
p.P402delFs
c.1206delC
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