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.S248L

c.743C>T

Surrounding Variants

1 paper

NM_022893.4

p.S248*

c.743C>A

1 paper

NM_022893.4

p.R249T

c.746G>C

1 paper

NM_022893.4

p.S252F

c.755C>T

1 paper

NM_022893.4

p.L241_R242delFs

c.723_724delTT

1 paper

NM_022893.4

p.L241I

c.721C>A

1 paper

NM_022893.4

p.L240insFs

c.719_720insCT

1 paper

NM_022893.4

p.R258H

c.773G>A

1 paper

NM_022893.4

p.T262I

c.785C>T

2 papers

NM_022893.4

p.P263L

c.788C>T

1 paper

NM_022893.4

p.A233P

c.697G>C

1 paper

NM_022893.4

p.P264T

c.790C>A

7 papers

NM_022893.4

p.L265fs

c.793_794fs