Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1T1
Variant:p.R386W

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
3 papers
NM_175634.3
p.R386W
c.1156C>T
Surrounding Variants
1 paper
NM_175634.3
p.R386L
c.1157G>T
1 paper
NM_175634.3
p.E388K
c.1162G>A
1 paper
NM_175634.3
p.N390S
c.1169A>G
1 paper
NM_175634.3
p.W392R
c.1174T>C
1 paper
NM_175634.3
p.W392R
c.1174T>A
2 papers
NM_175634.3
p.R394W
c.1180C>T
1 paper
NM_175634.3
p.R395W
c.1183C>T
1 paper
NM_175634.3
p.L375V
c.1123C>G
1 paper
NM_175634.3
p.D398Y
c.1192G>T
1 paper
NM_175634.3
p.R373Q
c.1118G>A
1 paper
NM_175634.3
p.E400*
c.1198G>T
1 paper
NM_175634.3
p.T371fs
c.1111_1112fs
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