Varaico: Literature-Extracted Genetic Variants

BCL11A

458 papers

RefSeq Summary

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and m...

Pfam Domains

CCHC_BCL-11Aaa 45–72UCSCBCL-11A-like CCHC zinc finger

zf-C2H2aa 377–399UCSCZinc finger, C2H2 type

zf-C2H2aa 405–427UCSCZinc finger, C2H2 type

zf-C2H2_16aa 736–761UCSCC2H2 zinc finger

zf-C2H2aa 742–764UCSCZinc finger, C2H2 type

zf-C2H2_16aa 770–795UCSCC2H2 zinc finger

Gene Aliases

HGNC Name

BCL11 transcription factor A

HGNC Previous Symbol

EVI9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022893.4

p.T171insFs

c.512_513insGC

Surrounding Variants

1 paper

NM_022893.4

p.C172Y

c.515G>A

1 paper

NM_022893.4

p.S168fs

c.502_503fs

1 paper

NM_022893.4

p.S168insFs

c.502dupA

1 paper

NM_022893.4

p.C175fs

c.523_524fs

1 paper

NM_022893.4

p.C175insFs

c.524dupG

1 paper

NM_022893.4

p.P167T

c.499C>A

1 paper

NM_022893.4

p.C175_K176insFs

c.525_526ins7

1 paper

NM_022893.4

p.E166G

c.497A>G

1 paper

NM_022893.4

p.T173_C175insFs

c.519_525dup7

9 papers

NM_022893.4

p.Q177*

c.529C>T

1 paper

NM_022893.4

p.Q177H

c.531G>C

1 paper

NM_022893.4

p.C163insFs

c.488dupG