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.E202E

c.606A>G

Surrounding Variants

1 paper

NM_022893.4

p.E202K

c.604G>A

1 paper

NM_022893.4

p.S201S

c.603C>T

1 paper

NM_022893.4

p.E200_S201delFs

c.599_602del4

3 papers

NM_022893.4

p.G204R

c.610G>C

3 papers

NM_022893.4

p.G204R

c.610G>A

1 paper

NM_022893.4

p.L199*

c.596T>G

1 paper

NM_022893.4

p.L199*

c.596T>A

1 paper

NM_022893.4

p.P206S

c.616C>T

1 paper

NM_022893.4

p.I197T

c.590T>C

1 paper

NM_022893.4

p.P209S

c.625C>T

1 paper

NM_022893.4

p.P209L

c.626C>T

1 paper

NM_022893.4

p.R210L

c.629G>T