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.L342H

c.1025T>A

Surrounding Variants

1 paper

NM_001032999.3

p.W335C

c.1005G>C

1 paper

NM_001032999.3

p.W335C

c.1005G>T

1 paper

NM_001032999.3

p.H328_L330del3

c.982_989del9

1 paper

NM_001032999.3

p.V326A

c.977T>C

1 paper

NM_001032999.3

p.N347T

c.1040A>C

1 paper

NM_001032999.3

p.N347K

c.1041T>A

1 paper

NM_001032999.3

p.N347K

c.1041T>G

1 paper

NM_001032999.3

p.R358H

c.1073G>A

1 paper

NM_001032999.3

p.R358L

c.1073G>T

1 paper

NM_001032999.3

p.A361A

c.1083A>G

1 paper

NM_001032999.3

p.R365H

c.1094G>A

1 paper

NM_001032999.3

p.E373G

c.1118A>G