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.G229E

c.686G>A

Surrounding Variants

1 paper

NM_022893.4

p.L227L

c.681C>T

1 paper

NM_022893.4

p.H231N

c.691C>A

1 paper

NM_001363864.1

p.L193delFs

c.577delG

1 paper

NM_022893.4

p.H231insFs

c.691dupC

1 paper

NM_022893.4

p.H231delFs

c.691delG

1 paper

NM_022893.4

p.P226L

c.677C>T

1 paper

NM_022893.4

p.A233P

c.697G>C

1 paper

NM_022893.4

p.C221Y

c.662G>A

1 paper

NM_022893.4

p.L240insFs

c.719_720insCT

1 paper

NM_022893.4

p.L241I

c.721C>A

1 paper

NM_001363864.1

p.P180_G182delFs

c.540_546del7

1 paper

NM_022893.4

p.G216delFs

c.647delC