Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1T1
Variant:p.Q416H

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.Q416H
c.1248G>T
Surrounding Variants
1 paper
NM_175634.3
p.Q415delFs
c.1245delC
1 paper
NM_175634.3
p.V419ins2
c.1255_1256ins6
1 paper
NM_175634.3
p.V419I
c.1255G>A
1 paper
NM_175634.3
p.S413C
c.1238C>G
1 paper
NM_175634.3
p.N420I
c.1259A>T
1 paper
NM_175634.3
p.H412Y
c.1234C>T
1 paper
NM_175634.3
p.D422_P423ins9
c.1264_1268ins27
1 paper
NM_175634.3
p.N420_P421del2
c.1258_1262del6
1 paper
NM_175634.3
p.D427Y
c.1279G>T
2 papers
NM_175634.3
p.K403delFs
c.1209delT
1 paper
NM_175634.3
p.D401G
c.1202A>G
1 paper
NM_175634.3
p.E400*
c.1198G>T
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."