Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1T1
Variant:p.P190L

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.P190L
c.569C>T
Surrounding Variants
2 papers
NM_175634.3
p.R201*
c.601A>T
1 paper
NM_175634.3
p.R201K
c.602G>A
1 paper
NM_175634.3
p.A203V
c.608C>T
1 paper
NM_175634.3
p.K204N
c.612A>T
1 paper
NM_175634.3
p.K204N
c.612A>C
1 paper
NM_175634.3
p.L211F
c.631C>T
1 paper
NM_175634.3
p.A212P
c.634G>C
1 paper
NM_175634.3
p.H214H
c.642T>C
1 paper
NM_175634.3
p.Q216*
c.646C>T
1 paper
NM_175634.3
p.S222R
c.664A>C
1 paper
NM_175634.3
p.S222R
c.666C>G
1 paper
NM_175634.3
p.S222R
c.666C>A
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