Varaico: Literature-Extracted Genetic Variants

FBXL14

31 papers

RefSeq Summary

Members of the F-box protein family, such as FBXL14, 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 6–49UCSCF-box-like

LRR_FBXL15aa 114–196UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

LRR_FBXL15aa 190–355UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 14

HGNC Alias Symbols

MGC40195; Fbl14

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

3 papers

NM_152441.3

p.N102H

c.304A>C

2 papers

NM_152441.3

p.L78F

c.232C>T

2 papers

NM_152441.3

p.V410M

c.1228G>A

1 paper

NM_152441.3

p.G18S

c.52G>A

1 paper

NM_152441.3

p.A29T

c.85G>A

1 paper

NM_152441.3

p.R46W

c.136C>T

1 paper

NM_152441.3

p.V48delFs

c.142delC

1 paper

NM_152441.3

p.V48fs

c.142_143fs

1 paper

NM_152441.3

p.L52L

c.156G>A

1 paper

NM_152441.3

p.A57A

c.171C>G

1 paper

NM_152441.3

p.R68W

c.202C>T

1 paper

NM_152441.3

p.S77S

c.231C>T