Varaico: Literature-Extracted Genetic Variants

Gene:FBXL13
Variant:p.M1K

FBXL13

27 papers

RefSeq Summary

Members of the F-box protein family, such as FBXL13, 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 245–291UCSCF-box-like
LRR_FBXL15aa 310–469UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain
LRR_FBXL15aa 460–564UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain
LRR_FBXL15aa 561–778UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 13

HGNC Alias Symbols

MGC21636; Fbl13; DRC6; CFAP169

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394494.2
p.M1K
c.2T>A
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