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.N651delFs

c.1952delT

Surrounding Variants

1 paper

NM_022893.4

p.N651fs

c.1951_1952fs

1 paper

NM_022893.4

p.T652M

c.1955C>T

2 papers

NM_022893.4

p.V655M

c.1963G>A

1 paper

NM_022893.4

p.V655A

c.1964T>C

1 paper

NM_022893.4

p.Y656insFs

c.1967_1968dupAC

1 paper

NM_022893.4

p.S633_D643del11

c.1897_1928del33

1 paper

NM_022893.4

p.L660P

c.1979T>C

1 paper

NM_022893.4

p.D643N

c.1927G>A

1 paper

NM_022893.4

p.A661delins

c.1981delinsCCCCGCCGCG

1 paper

NM_022893.4

p.A661Fs

c.1981delinsCCCCGCCGCFs

1 paper

NM_022893.4

p.G662A

c.1985G>C

1 paper

NM_022893.4

p.E641K

c.1921G>A