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.H524insFs

c.1571dupA

Surrounding Variants

1 paper

NM_022893.4

p.H525_E526ins7

c.1573_1577ins21

2 papers

NM_022893.4

p.H524P

c.1571A>C

1 paper

NM_022893.4

p.A522G

c.1565C>G

1 paper

NM_022893.4

p.A522insFs

c.1564dupG

1 paper

NM_022893.4

p.A522T

c.1564G>A

1 paper

NM_022893.4

p.L519delFs

c.1555_1556delAG

1 paper

NM_022893.4

p.R530P

c.1589G>C

1 paper

NM_022893.4

p.G531C

c.1591G>T

1 paper

NM_022893.4

p.S518N

c.1553G>A

3 papers

NM_022893.4

p.A532T

c.1594G>A

1 paper

NM_022893.4

p.V533G

c.1598T>G

4 papers

NM_022893.4

p.F515Fs

c.1545delinsGGCTTCFs