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

7 papers

NM_022893.4

p.S215*

c.644C>G

Surrounding Variants

7 papers

NM_022893.4

p.S215*

c.644C>A

2 papers

NM_022893.4

p.V211_S215delFs

c.633_643del11

1 paper

NM_001363864.1

p.S181fs

c.541_542fs

1 paper

NM_022893.4

p.S215delFs

c.644delG

1 paper

NM_001363864.1

p.G182R

c.544G>A

1 paper

NM_022893.4

p.P214H

c.641C>A

1 paper

NM_022893.4

p.G216delFs

c.647delC

1 paper

NM_001363864.1

p.P180_G182delFs

c.540_546del7

1 paper

NM_022893.4

p.G212fs

c.634_635fs

1 paper

NM_022893.4

p.R210L

c.629G>T

1 paper

NM_022893.4

p.C221Y

c.662G>A

1 paper

NM_022893.4

p.P209L

c.626C>T