Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1T1
Variant:p.S49Y

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.S49Y
c.146C>A
Surrounding Variants
1 paper
NM_175634.3
p.T47R
c.140C>G
1 paper
NM_175634.3
p.T52S
c.154A>T
1 paper
NM_175634.3
p.V45V
c.135G>T
4 papers
NM_175634.3
p.V45V
c.135G>C
2 papers
NM_175634.3
p.M56V
c.166A>G
1 paper
NM_175634.3
p.M56T
c.167T>C
1 paper
NM_175634.3
p.P58L
c.173C>T
1 paper
NM_175634.3
p.P39S
c.115C>T
1 paper
NM_175634.3
p.T62S
c.184A>T
1 paper
NM_175634.3
p.E33D
c.99G>T
1 paper
NM_175634.3
p.E33D
c.99G>C
1 paper
NM_175634.3
p.E33delFs
c.98delT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."