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.G283R

c.847G>A

Surrounding Variants

1 paper

NM_022893.4

p.G283R

c.847G>C

1 paper

NM_022893.4

p.L282P

c.845T>C

1 paper

NM_022893.4

p.L282Q

c.845T>A

1 paper

NM_022893.4

p.E280E

c.840G>A

1 paper

NM_022893.4

p.E286G

c.857A>G

1 paper

NM_022893.4

p.H277insFs

c.831dupC

1 paper

NM_022893.4

p.M287I

c.861G>C

1 paper

NM_022893.4

p.R278H

c.833G>A

1 paper

NM_022893.4

p.A288V

c.863C>T

1 paper

NM_022893.4

p.A290G

c.869C>G

1 paper

NM_022893.4

p.A290D

c.869C>A

1 paper

NM_022893.4

p.L274F

c.822G>T