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

Selected Variant

1 paper

NM_152441.3

p.S242S

c.726G>A

Surrounding Variants

1 paper

NM_152441.3

p.L255L

c.763C>T

1 paper

NM_152441.3

p.S257fs

c.769_770fs

1 paper

NM_152441.3

p.K214M

c.641A>T

1 paper

NM_152441.3

p.C212Y

c.635G>A

1 paper

NM_152441.3

p.G200V

c.599G>T

1 paper

NM_152441.3

p.A198E

c.593C>A

1 paper

NM_152441.3

p.I317M

c.951C>G

1 paper

NM_152441.3

p.A121D

c.362C>A

1 paper

NM_152441.3

p.R120P

c.359G>C

1 paper

NM_152441.3

p.E115del1

c.343_344delCTC

1 paper

NM_152441.3

p.I369fs

c.1105_1106fs

3 papers

NM_152441.3

p.N102H

c.304A>C