Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1T1
Variant:p.Q558*

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.Q558*
c.1672C>T
Surrounding Variants
1 paper
NM_175634.3
p.Q558P
c.1673A>C
1 paper
NM_175634.3
p.A557V
c.1670C>T
1 paper
NM_175634.3
p.Q559E
c.1675C>G
1 paper
NM_175634.3
p.L555P
c.1664T>C
1 paper
NM_175634.3
p.P564T
c.1690C>A
1 paper
NM_175634.3
p.P564_A565insFs
c.1692_1693insT
1 paper
NM_175634.3
p.H547H
c.1641C>T
1 paper
NM_175634.3
p.H547Q
c.1641C>G
1 paper
NM_175634.3
p.H547Q
c.1641C>A
1 paper
NM_175634.3
p.H547N
c.1639C>A
1 paper
NM_175634.3
p.V570L
c.1708G>C
1 paper
NM_175634.3
p.V570insFs
c.1709_1710insC
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