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.A80G

c.239C>G

Surrounding Variants

1 paper

NM_022893.4

p.E78_K79insFs

c.234_235insA

1 paper

NM_022893.4

p.A80T

c.238G>A

1 paper

NM_022893.4

p.C76C

c.228C>T

2 papers

NM_022893.4

p.P84R

c.251C>G

1 paper

NM_022893.4

p.G73G

c.219C>T

1 paper

NM_001405735.1

p.N20Y

c.58A>T

1 paper

NM_022893.4

p.N72D

c.214A>G

3 papers

NM_022893.4

p.E91fs

c.271_272fs

5 papers

NM_022893.4

p.E91delFs

c.271delC

1 paper

NM_022893.4

p.K69*

c.205A>T

1 paper

NM_022893.4

p.M92I

c.276G>T

1 paper

NM_022893.4

p.M92fs

c.274_275fs