Varaico: Literature-Extracted Genetic Variants

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.R430H

c.1289G>A

Surrounding Variants

16 papers

NM_003902.5

p.R430C

c.1288C>T

1 paper

NM_003902.5

p.I436fs

c.1306_1307fs

1 paper

NM_003902.5

p.M424T

c.1271T>C

1 paper

NM_003902.5

p.I436fs

c.1306_1307fs

2 papers

NM_003902.5

p.Q435_I436delFs

c.1304_1307del4

1 paper

NM_003902.5

p.N423D

c.1267A>G

1 paper

NM_003902.5

p.I443V

c.1327A>G

1 paper

NM_003902.5

p.P416S

c.1246C>T

1 paper

NM_003902.5

p.E445*

c.1333G>T

1 paper

NM_003902.5

p.G448C

c.1342G>T

1 paper

NM_003902.5

p.G448_G449Splc

c.1344+1G>A

1 paper

NM_003902.5

p.E411*

c.1231G>T