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.P475L

c.1424C>T

Surrounding Variants

1 paper

NM_005187.6

p.P475P

c.1425G>A

1 paper

NM_005187.6

p.P475S

c.1423C>T

3 papers

NM_005187.6

p.R471H

c.1412G>A

1 paper

NM_005187.6

p.R488S

c.1464G>T

1 paper

NM_005187.6

p.S459delins

c.1376_1377delinsTT

1 paper

NM_005187.6

p.S457I

c.1370G>T

3 papers

NM_005187.6

p.R456C

c.1366C>T

1 paper

NM_005187.6

p.P455S

c.1363C>T

2 papers

NM_005187.6

p.R454Q

c.1361G>A

1 paper

NM_005187.6

p.G447S

c.1339G>A

1 paper

NM_005187.6

p.D443N

c.1327G>A

1 paper

NM_005187.6

p.A441S

c.1321G>T