Varaico: Literature-Extracted Genetic Variants

Gene:FBXL12

FBXL12

17 papers

RefSeq Summary

Members of the F-box protein family, such as FBXL12, 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 4–50UCSCF-box-like
F-box-likeaa 4–50UCSCF-box-like
F-box-likeaa 4–50UCSCF-box-like

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 12

HGNC Alias Symbols

FLJ20188; Fbl12

Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
2 papers
NM_017703.3
p.Q199*
c.595C>T
1 paper
NM_017703.3
p.T3S
c.7A>T
1 paper
NM_017703.3
p.S10P
c.28T>C
1 paper
NM_017703.3
p.I15T
c.44T>C
1 paper
NM_017703.3
p.R26C
c.76C>T
1 paper
NM_017703.3
p.C31F
c.92G>T
1 paper
NM_017703.3
p.L63H
c.188T>A
1 paper
NM_017703.3
p.L74L
c.220C>T
1 paper
NM_017703.3
p.R75Q
c.224G>A
1 paper
NM_017703.3
p.Q88delFs
c.262delG
1 paper
NM_017703.3
p.A92T
c.274G>A
1 paper
NM_017703.3
p.H110Q
c.330C>A
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