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.R560W

c.1678A>T

Surrounding Variants

1 paper

NM_001032999.3

p.R555K

c.1664G>A

1 paper

NM_001032999.3

p.Q546H

c.1638G>C

1 paper

NM_001032999.3

p.Q546H

c.1638G>T

3 papers

NM_001032999.3

p.Q546P

c.1637A>C

4 papers

NM_001032999.3

p.Q546R

c.1637A>G

8 papers

NM_001032999.3

p.Q546K

c.1636C>A

1 paper

NM_001032999.3

p.Q546E

c.1636C>G

13 papers

NM_001032999.3

p.G545S

c.1633G>A

3 papers

NM_001032999.3

p.G545R

c.1633G>C

1 paper

NM_001032999.3

p.G540G

c.1620C>A

1 paper

NM_001032999.3

p.S582A

c.1744T>G

1 paper

NM_001032999.3

p.C534_G535delFs

c.1600_1603del4