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.G13D

c.38G>A

Surrounding Variants

1 paper

NM_001032999.3

p.G13C

c.37G>T

1 paper

NM_001032999.3

p.L12_P19del0

c.36_56del21

1 paper

NM_001032999.3

p.P14P

c.42T>A

1 paper

NM_001032999.3

p.V18M

c.52G>A

1 paper

NM_001032999.3

p.V18E

c.53T>A

1 paper

NM_001032999.3

p.P19S

c.55C>T

1 paper

NM_001032999.3

p.A20A

c.60G>A

1 paper

NM_001032999.3

p.S24A

c.70T>G

1 paper

NM_001032999.3

p.K29R

c.86A>G

1 paper

NM_001032999.3

p.P37H

c.110C>A

1 paper

NM_001032999.3

p.T38N

c.113C>A

1 paper

NM_001032999.3

p.P41P

c.123C>T