Varaico: Literature-Extracted Genetic Variants

CBFA2T2

402 papers

RefSeq Summary

In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of ...

Pfam Domains

TAFHaa 115–204UCSCNHR1 homology to TAF

NHR2aa 331–397UCSCNHR2 domain like

zf-MYNDaa 507–543UCSCMYND finger

Gene Aliases

HGNC Name

CBFA2/RUNX1 partner transcriptional co-repressor 2

HGNC Alias Symbols

MTGR1; ZMYND3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001032999.3

p.Y517F

c.1550A>T

Surrounding Variants

1 paper

NM_001032999.3

p.S520F

c.1559C>T

1 paper

NM_001032999.3

p.N513S

c.1538A>G

1 paper

NM_001032999.3

p.G511D

c.1532G>A

1 paper

NM_001032999.3

p.D526N

c.1576G>A

1 paper

NM_001032999.3

p.E507Q

c.1519G>C

1 paper

NM_001032999.3

p.R503H

c.1508G>A

1 paper

NM_001032999.3

p.G502_R503insYA

c.1504_1508ins6

1 paper

NM_001032999.3

p.C534_G535delFs

c.1600_1603del4

1 paper

NM_001032999.3

p.N500I

c.1499A>T

1 paper

NM_001032999.3

p.G540G

c.1620C>A

13 papers

NM_001032999.3

p.G545S

c.1633G>A

3 papers

NM_001032999.3

p.G545R

c.1633G>C