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.R422H

c.1265G>A

Surrounding Variants

1 paper

NM_022893.4

p.L420L

c.1260G>A

1 paper

NM_022893.4

p.K425N

c.1275G>C

3 papers

NM_022893.4

p.T426M

c.1277C>T

1 paper

NM_022893.4

p.S418G

c.1252A>G

1 paper

NM_022893.4

p.A417S

c.1249G>T

1 paper

NM_022893.4

p.C414*

c.1242C>A

3 papers

NM_022893.4

p.C414S

c.1241G>C

1 paper

NM_022893.4

p.H429_K430insFs

c.1285_1288dup4

3 papers

NM_022893.4

p.C414S

c.1240T>A

1 paper

NM_022893.4

p.K430fs

c.1288_1289fs

1 paper

NM_022893.4

p.S432S

c.1296C>A

1 paper

NM_022893.4

p.C410*

c.1230C>A