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.L46V

c.136C>G

Surrounding Variants

1 paper

NM_022893.4

p.L46insFs

c.136dupC

1 paper

NM_022893.4

p.L46P

c.137T>C

1 paper

NM_022893.4

p.L45R

c.134T>G

13 papers

NM_022893.4

p.T47P

c.139A>C

1 paper

NM_022893.4

p.C48R

c.142T>C

15 papers

NM_022893.4

p.C48F

c.143G>T

1 paper

NM_022893.4

p.D42N

c.124G>A

4 papers

NM_022893.4

p.Q50*

c.148C>T

1 paper

NM_022893.4

p.G41V

c.122G>T

1 paper

NM_022893.4

p.C51S

c.151T>A

1 paper

NM_022893.4

p.C51S

c.152G>C

1 paper

NM_022893.4

p.C51Y

c.152G>A