Varaico: Literature-Extracted Genetic Variants

FBXL20

17 papers

RefSeq Summary

Members of the F-box protein family, such as FBXL20, 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 26–71UCSCF-box-like

LRR_FBXL15aa 112–244UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

LRR_FBXL15aa 233–400UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 20

HGNC Alias Symbols

MGC15482; Fbl2; Fbl20

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

1 paper

NM_032875.3

p.N6insFs

c.17_18insGG

1 paper

NM_032875.3

p.N6ins3

c.17_18ins9

1 paper

NM_032875.3

p.E14_M15Splc

c.42+26463A>G

1 paper

NM_032875.3

p.S17_N18insGG

c.49_53ins6

1 paper

NM_032875.3

p.S17_N18ins9

c.49_53ins27

1 paper

NM_032875.3

p.R35W

c.103C>T

1 paper

NM_032875.3

p.E78_G79Splc

c.234+50A>G

1 paper

NM_001184906.2

p.R242W

c.724C>T

1 paper

NM_032875.3

p.R274W

c.820C>T

1 paper

NM_032875.3

p.F291S

c.872T>C

1 paper

NM_032875.3

p.Q319E

c.955C>G

1 paper

NM_032875.3

p.R326*

c.976C>T