Varaico: Literature-Extracted Genetic Variants

Gene:FBXO40
Variant:p.S575T

FBXO40

54 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-b...

Pfam Domains

zf-TRAF_2aa 12–104UCSCTRAF-like zinc-finger
F-boxaa 573–611UCSCF-box domain

Gene Aliases

HGNC Name

F-box protein 40

HGNC Alias Symbols

KIAA1195; Fbx40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016298.4
p.S575T
c.1724G>C
Surrounding Variants
2 papers
NM_016298.4
p.A594G
c.1781C>G
1 paper
NM_016298.4
p.A550P
c.1648G>C
1 paper
NM_016298.4
p.V549I
c.1645G>A
1 paper
NM_016298.4
p.E539Q
c.1615G>C
1 paper
NM_016298.4
p.Q612*
c.1834C>T
1 paper
NM_016298.4
p.Y536H
c.1606T>C
1 paper
NM_016298.4
p.K622R
c.1865A>G
1 paper
NM_016298.4
p.R526C
c.1576C>T
1 paper
NM_016298.4
p.H628Y
c.1882C>T
1 paper
NM_016298.4
p.F520L
c.1560T>A
1 paper
NM_016298.4
p.F520L
c.1560T>G
1 paper
NM_016298.4
p.F520L
c.1558T>C
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."