Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1T1
Variant:p.P295R

RUNX1T1

352 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 122–211UCSCNHR1 homology to TAF
NHR2aa 337–403UCSCNHR2 domain like
zf-MYNDaa 515–551UCSCMYND finger

Gene Aliases

HGNC Name

RUNX1 partner transcriptional co-repressor 1

HGNC Previous Symbols

AML1T1; CBFA2T1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175634.3
p.P295R
c.884C>G
Surrounding Variants
1 paper
NM_175634.3
p.P295insFs
c.883dupC
1 paper
NM_175634.3
p.P297_Q298ins4
c.889_893ins12
1 paper
NM_175634.3
p.H299Y
c.895C>T
2 papers
NM_175634.3
p.R301H
c.902G>A
1 paper
NM_175634.3
p.L289L
c.865C>T
1 paper
NM_175634.3
p.L289V
c.865C>G
1 paper
NM_175634.3
p.D304N
c.910G>A
1 paper
NM_175634.3
p.Q285E
c.853C>G
1 paper
NM_175634.3
p.Q285_P286insAGA
c.853_857ins9
1 paper
NM_175634.3
p.S283F
c.848C>T
1 paper
NM_175634.3
p.D303_A308delins
c.909_924delinsCACCCCTCCACCG
1 paper
NM_175634.3
p.G281S
c.841G>A
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