Varaico: Literature-Extracted Genetic Variants

Gene:FBXL12
Variant:p.L227R

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
Selected Variant
1 paper
NM_017703.3
p.L227R
c.680T>G
Surrounding Variants
1 paper
NM_017703.3
p.R225C
c.673C>T
1 paper
NM_017703.3
p.R234R
c.702G>C
1 paper
NM_017703.3
p.V237V
c.711G>C
1 paper
NM_017703.3
p.Q205*
c.613C>T
2 papers
NM_017703.3
p.Q199*
c.595C>T
1 paper
NM_017703.3
p.G193R
c.577G>A
1 paper
NM_017703.3
p.P262S
c.784C>T
1 paper
NM_017703.3
p.T190P
c.568A>C
1 paper
NM_017703.3
p.L275P
c.824T>C
1 paper
NM_017703.3
p.L172M
c.514C>A
1 paper
NM_017703.3
p.Q290L
c.869A>T
1 paper
NM_017703.3
p.L292V
c.874C>G
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