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

3 papers

NM_001032999.3

p.K111N

c.333A>T

Surrounding Variants

3 papers

NM_001032999.3

p.K111N

c.333A>C

1 paper

NM_001032999.3

p.K111E

c.331A>G

1 paper

NM_001032999.3

p.K109E

c.325A>G

1 paper

NM_001032999.3

p.T101S

c.301A>T

1 paper

NM_001032999.3

p.P99A

c.295C>G

1 paper

NM_001032999.3

p.I124M

c.372C>G

2 papers

NM_001032999.3

p.G129E

c.386G>A

1 paper

NM_001032999.3

p.L93fs

c.277_278fs

1 paper

NM_001032999.3

p.S87S

c.261C>A

2 papers

NM_001032999.3

p.P85A

c.253C>G

1 paper

NM_001032999.3

p.P85S

c.253C>T

1 paper

NM_001032999.3

p.V140M

c.418G>A