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.Q104*

c.310C>T

Surrounding Variants

1 paper

NM_022893.4

p.G102V

c.305G>T

2 papers

NM_022893.4

p.T106M

c.317C>T

1 paper

NM_022893.4

p.V99delFs

c.295delC

1 paper

NM_022893.4

p.V99M

c.295G>A

1 paper

NM_022893.4

p.P98P

c.294C>T

1 paper

NM_022893.4

p.D109V

c.326A>T

1 paper

NM_022893.4

p.D109G

c.326A>G

1 paper

NM_022893.4

p.D109insFs

c.325_326insGT

1 paper

NM_022893.4

p.D109fs

c.325_326fs

1 paper

NM_022893.4

p.P98L

c.293C>T

1 paper

NM_022893.4

p.S96_N97Fs

c.286_291delinsAFs

1 paper

NM_022893.4

p.N97S

c.290A>G