Varaico: Literature-Extracted Genetic Variants

Gene:FUBP1
Variant:p.N423D

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
1 paper
NM_003902.5
p.N423D
c.1267A>G
Surrounding Variants
1 paper
NM_003902.5
p.M424T
c.1271T>C
16 papers
NM_003902.5
p.R430C
c.1288C>T
1 paper
NM_003902.5
p.P416S
c.1246C>T
1 paper
NM_003902.5
p.R430H
c.1289G>A
1 paper
NM_003902.5
p.E411*
c.1231G>T
1 paper
NM_003902.5
p.G407_I410delFs
c.1220_1229del10
1 paper
NM_003902.5
p.I436fs
c.1306_1307fs
1 paper
NM_003902.5
p.I436fs
c.1306_1307fs
1 paper
NM_003902.5
p.A408A
c.1224A>C
2 papers
NM_003902.5
p.Q435_I436delFs
c.1304_1307del4
1 paper
NM_003902.5
p.Q404delFs
c.1211delT
1 paper
NM_003902.5
p.Q404fs
c.1210_1211fs
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