Varaico: Literature-Extracted Genetic Variants

CBFA2T3

131 papers

RefSeq Summary

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. Th...

Pfam Domains

TAFHaa 173–262UCSCNHR1 homology to TAF

NHR2aa 379–445UCSCNHR2 domain like

zf-MYNDaa 556–592UCSCMYND finger

Gene Aliases

HGNC Name

CBFA2/RUNX1 partner transcriptional co-repressor 3

HGNC Alias Symbols

MTGR2; ZMYND4; MTG16; RUNX1T3; ETO2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005187.6

p.P329T

c.985C>A

Surrounding Variants

1 paper

NM_005187.6

p.S328N

c.983G>A

1 paper

NM_005187.6

p.R326P

c.977G>C

3 papers

NM_005187.6

p.R326H

c.977G>A

1 paper

NM_005187.6

p.P323L

c.968C>T

1 paper

NM_005187.6

p.Q335fs

c.1003_1004fs

1 paper

NM_005187.6

p.Q335Fs

c.1003delinsGAFs

1 paper

NM_005187.6

p.T337I

c.1010C>T

1 paper

NM_005187.6

p.C319W

c.957C>G

1 paper

NM_005187.6

p.C319Y

c.956G>A

1 paper

NM_005187.6

p.R317W

c.949C>T

1 paper

NM_005187.6

p.R343C

c.1027C>T

2 papers

NM_005187.6

p.E312K

c.934G>A