Varaico: Literature-Extracted Genetic Variants

Gene:FBXO34
Variant:p.L497F

FBXO34

41 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO34, 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

F-box-likeaa 575–612UCSCF-box-like

Gene Aliases

HGNC Name

F-box protein 34

HGNC Alias Symbols

FLJ20725; Fbx34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017943.4
p.L497F
c.1491G>T
Surrounding Variants
1 paper
NM_017943.4
p.L497F
c.1491G>C
1 paper
NM_017943.4
p.Q496_L497delins
c.1488_1489delinsAT
1 paper
NM_017943.4
p.S500G
c.1498A>G
1 paper
NM_017943.4
p.Q489E
c.1465C>G
1 paper
NM_017943.4
p.P487S
c.1459C>T
1 paper
NM_017943.4
p.A508V
c.1523C>T
3 papers
NM_017943.4
p.L485fs
c.1453_1454fs
1 paper
NM_017943.4
p.F483delFs
c.1447delT
1 paper
NM_017943.4
p.I470N
c.1409T>A
1 paper
NM_017943.4
p.L533P
c.1598T>C
1 paper
NM_017943.4
p.S549_D557del9
c.1645_1670del27
1 paper
NM_017943.4
p.D557Y
c.1669G>T
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