Varaico: Literature-Extracted Genetic Variants

Gene:FBXO40
Variant:p.T428fs

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.T428fs
c.1282_1283fs
Surrounding Variants
1 paper
NM_016298.4
p.T428I
c.1283C>T
1 paper
NM_016298.4
p.A427fs
c.1279_1280fs
1 paper
NM_016298.4
p.D425Y
c.1273G>T
1 paper
NM_016298.4
p.M424I
c.1272G>A
1 paper
NM_016298.4
p.M424I
c.1272G>C
1 paper
NM_016298.4
p.M424I
c.1272G>T
1 paper
NM_016298.4
p.E407Q
c.1219G>C
1 paper
NM_016298.4
p.K371R
c.1112A>G
1 paper
NM_016298.4
p.D486G
c.1457A>G
1 paper
NM_016298.4
p.R360Q
c.1079G>A
1 paper
NM_016298.4
p.V347A
c.1040T>C
1 paper
NM_016298.4
p.R510*
c.1528C>T
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