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.G606S

c.1816G>A

Surrounding Variants

1 paper

NM_022893.4

p.G604V

c.1811G>T

1 paper

NM_022893.4

p.D599_V602del4

c.1795_1805del12

3 papers

NM_022893.4

p.P609fs

c.1825_1826fs

4 papers

NM_022893.4

p.P609delFs

c.1826delG

3 papers

NM_022893.4

p.E611*

c.1831G>T

1 paper

NM_022893.4

p.E611K

c.1831G>A

1 paper

NM_022893.4

p.S612insFs

c.1834_1835insA

1 paper

NM_022893.4

p.S612L

c.1835C>T

1 paper

NM_022893.4

p.S614S

c.1842G>A

1 paper

NM_022893.4

p.G615E

c.1844G>A

1 paper

NM_022893.4

p.G616V

c.1847G>T

1 paper

NM_022893.4

p.G616D

c.1847G>A