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.R397H

c.1190G>A

Surrounding Variants

2 papers

NM_022893.4

p.R397C

c.1189C>T

1 paper

NM_022893.4

p.R396Q

c.1187G>A

2 papers

NM_022893.4

p.T400M

c.1199C>T

1 paper

NM_022893.4

p.G401C

c.1201G>T

1 paper

NM_022893.4

p.G401A

c.1202G>C

1 paper

NM_022893.4

p.V393L

c.1177G>T

1 paper

NM_022893.4

p.V393L

c.1177G>C

1 paper

NM_022893.4

p.V393M

c.1177G>A

4 papers

NM_022893.4

p.N391K

c.1173C>G

4 papers

NM_022893.4

p.N391K

c.1173C>A

1 paper

NM_022893.4

p.S390N

c.1169G>A

1 paper

NM_022893.4

p.S390G

c.1168A>G