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

1–12 of 563 variants

15 papers

NM_022893.4

p.C48F

c.143G>T

13 papers

NM_022893.4

p.T47P

c.139A>C

13 papers

NM_022893.4

p.H66Q

c.198C>G

13 papers

NM_022893.4

p.H66Q

c.198C>A

10 papers

NM_022893.4

p.Q52*

c.154C>T

9 papers

NM_022893.4

p.Q177*

c.529C>T

8 papers

NM_022893.4

p.E65*

c.193G>T

8 papers

NM_022893.4

p.D129Splc

c.386-1G>A

8 papers

NM_022893.4

p.P264_L265insFs

c.792_793insC

8 papers

NM_022893.4

p.K784T

c.2351A>C

7 papers

NM_022893.4

p.P19Splc

c.56-1G>A

7 papers

NM_022893.4

p.S215*

c.644C>G