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.R761R

c.2283G>A

Surrounding Variants

1 paper

NM_022893.4

p.R762G

c.2284A>G

1 paper

NM_022893.4

p.R761G

c.2281A>G

1 paper

NM_022893.4

p.H760R

c.2279A>G

1 paper

NM_022893.4

p.V759A

c.2276T>C

1 paper

NM_022893.4

p.T765M

c.2294C>T

1 paper

NM_022893.4

p.T758P

c.2272A>C

2 papers

NM_022893.4

p.N756K

c.2268T>G

1 paper

NM_022893.4

p.N756N

c.2268T>C

2 papers

NM_022893.4

p.N756K

c.2268T>A

2 papers

NM_022893.4

p.N756S

c.2267A>G

1 paper

NM_022893.4

p.N756D

c.2266A>G

1 paper

NM_022893.4

p.N756H

c.2266A>C