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

2 papers

NM_022893.4

p.Q556H

c.1668G>T

Surrounding Variants

2 papers

NM_022893.4

p.Q556H

c.1668G>C

1 paper

NM_022893.4

p.Q556*

c.1666C>T

1 paper

NM_022893.4

p.S554T

c.1660T>A

1 paper

NM_022893.4

p.V551E

c.1652T>A

1 paper

NM_022893.4

p.M550V

c.1648A>G

1 paper

NM_001365609.1

p.G515Fs

c.1545delinsGGCTTCFs

1 paper

NM_022893.4

p.D545_M547del0

c.1634_1639del6

1 paper

NM_022893.4

p.S540_V546del7

c.1618_1637del21

1 paper

NM_022893.4

p.D545V

c.1634A>T

1 paper

NM_022893.4

p.V534_P544delFs

c.1601_1631del31

1 paper

NM_022893.4

p.L543Q

c.1628T>A

1 paper

NM_022893.4

p.A542V

c.1625C>T