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

1–12 of 129 variants

13 papers

NM_001032999.3

p.G545S

c.1633G>A

8 papers

NM_001032999.3

p.Q546K

c.1636C>A

4 papers

NM_001032999.3

p.Q546R

c.1637A>G

3 papers

NM_001032999.3

p.G13D

c.38G>A

3 papers

NM_001032999.3

p.K111N

c.333A>C

3 papers

NM_001032999.3

p.K111N

c.333A>T

3 papers

NM_001032999.3

p.L342H

c.1025T>A

3 papers

NM_001032999.3

p.G545R

c.1633G>C

3 papers

NM_001032999.3

p.Q546P

c.1637A>C

2 papers

NM_001032999.3

p.V4I

c.10G>A

2 papers

NM_001032999.3

p.P85A

c.253C>G

2 papers

NM_001032999.3

p.G129E

c.386G>A