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.L186S

c.557T>C

Surrounding Variants

1 paper

NM_022893.4

p.L185H

c.554T>A

1 paper

NM_022893.4

p.Q187fs

c.559_560fs

1 paper

NM_022893.4

p.H188Y

c.562C>T

1 paper

NM_022893.4

p.H188R

c.563A>G

2 papers

NM_022893.4

p.A189T

c.565G>A

1 paper

NM_022893.4

p.T180_A182delFs

c.540_546del7

1 paper

NM_022893.4

p.Q190*

c.568C>T

2 papers

NM_022893.4

p.Q187_A189delFs

c.561_567del7

3 papers

NM_022893.4

p.A182T

c.544G>A

1 paper

NM_022893.4

p.S181fs

c.541_542fs

1 paper

NM_022893.4

p.T192fs

c.574_575fs

1 paper

NM_022893.4

p.T180T

c.540C>G