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.R787G

c.2359A>G

Surrounding Variants

1 paper

NM_022893.4

p.H788R

c.2363A>G

1 paper

NM_022893.4

p.M789insFs

c.2366dupT

8 papers

NM_022893.4

p.K784T

c.2351A>C

1 paper

NM_022893.4

p.C779_S783delFs

c.2336_2348del13

3 papers

NM_022893.4

p.S783N

c.2348G>A

2 papers

NM_022893.4

p.S783G

c.2347A>G

1 paper

NM_022893.4

p.T791M

c.2372C>T

2 papers

NM_022893.4

p.H792_G793insC

c.2374_2378ins3

1 paper

NM_022893.4

p.S782G

c.2344A>G

1 paper

NM_022893.4

p.Q781R

c.2342A>G

1 paper

NM_022893.4

p.G793V

c.2378G>T

1 paper

NM_022893.4

p.C779F

c.2336G>T