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.P270R

c.809C>G

Surrounding Variants

2 papers

NM_022893.4

p.P270L

c.809C>T

2 papers

NM_022893.4

p.P270Q

c.809C>A

1 paper

NM_022893.4

p.H273R

c.818A>G

1 paper

NM_022893.4

p.F266fs

c.796_797fs

1 paper

NM_022893.4

p.L274F

c.822G>T

1 paper

NM_022893.4

p.L274F

c.822G>C

1 paper

NM_022893.4

p.L265Fs

c.793delinsCTFs

3 papers

NM_022893.4

p.L265fs

c.793_794fs

1 paper

NM_022893.4

p.L265delFs

c.794delA

1 paper

NM_022893.4

p.L265delFs

c.793_794delAG

8 papers

NM_022893.4

p.P264_L265insFs

c.792_793insC

2 papers

NM_022893.4

p.L265delFs

c.793delG