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.R582delFs

c.1744_1745delCT

Surrounding Variants

1 paper

NM_022893.4

p.D583N

c.1747G>A

1 paper

NM_001363864.1

p.H540_G546del7

c.1618_1637del21

1 paper

NM_022893.4

p.H581delFs

c.1742delT

1 paper

NM_022893.4

p.E579_H581delFs

c.1735_1741del7

1 paper

NM_022893.4

p.E579fs

c.1735_1736fs

1 paper

NM_022893.4

p.E579insFs

c.1736dupA

1 paper

NM_022893.4

p.D586N

c.1756G>A

1 paper

NM_022893.4

p.V590L

c.1768G>T

1 paper

NM_022893.4

p.V590L

c.1768G>C

1 paper

NM_022893.4

p.V590M

c.1768G>A

1 paper

NM_022893.4

p.A591insFs

c.1772_1773ins11

1 paper

NM_022893.4

p.A591insFs

c.1772_1773insGA