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.P372T

c.1114C>A

Surrounding Variants

1 paper

NM_022893.4

p.Q371Q

c.1113G>A

1 paper

NM_022893.4

p.P373insFs

c.1118dupC

1 paper

NM_022893.4

p.P373P

c.1119G>A

1 paper

NM_022893.4

p.P367P

c.1101T>C

1 paper

NM_022893.4

p.P359_P367delFs

c.1076_1100del25

1 paper

NM_022893.4

p.P367R

c.1100C>G

1 paper

NM_022893.4

p.A366S

c.1096G>T

1 paper

NM_022893.4

p.A366P

c.1096G>C

1 paper

NM_022893.4

p.S378*

c.1133C>G

1 paper

NM_022893.4

p.S378*

c.1133C>A

1 paper

NM_022893.4

p.S378S

c.1134A>G

1 paper

NM_022893.4

p.C379R

c.1135T>C