Varaico: Literature-Extracted Genetic Variants

Gene:CBFA2T2
Variant:p.V4I

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
NHR2aa 331–397UCSCNHR2 domain like
zf-MYNDaa 507–543UCSCMYND finger
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
2 papers
NM_001032999.3
p.V4I
c.10G>A
Surrounding Variants
1 paper
NM_001032999.3
p.M1Fs
c.2delinsCTGFs
1 paper
NM_001032999.3
p.A8S
c.22G>T
1 paper
NM_001032999.3
p.L12Splc
c.34+55C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."