Varaico: Literature-Extracted Genetic Variants

Gene:FUBP1
Variant:p.R344*

FUBP1

322 papers

RefSeq Summary

The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occu...

Pfam Domains

KH_1aa 101–165UCSCKH domain
KH_1aa 186–252UCSCKH domain
KH_1aa 276–340UCSCKH domain
KH_1aa 377–444UCSCKH domain
FUBP_Caa 571–598UCSCFar upstream element-binding protein, C-terminal
FUBP_Caa 601–623UCSCFar upstream element-binding protein, C-terminal

Gene Aliases

HGNC Name

far upstream element binding protein 1

HGNC Previous Name

far upstream element (FUSE) binding protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003902.5
p.R344*
c.1030C>T
Surrounding Variants
1 paper
NM_003902.5
p.Q347*
c.1039C>T
1 paper
NM_003902.5
p.Q347Q
c.1041G>A
1 paper
NM_003902.5
p.T340A
c.1018A>G
1 paper
NM_003902.5
p.E337K
c.1009G>A
1 paper
NM_003902.5
p.Q347_A348Splc
c.1041+14T>G
1 paper
NM_003902.5
p.A335Fs
c.1003delinsGAFs
1 paper
NM_003902.5
p.C332R
c.994T>C
1 paper
NM_003902.5
p.R331Q
c.992G>A
1 paper
NM_003902.5
p.R331G
c.991C>G
1 paper
NM_003902.5
p.G327*
c.979G>T
1 paper
NM_003902.5
p.T326T
c.978A>T
2 papers
NM_003902.5
p.T326I
c.977C>T
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