Varaico: Literature-Extracted Genetic Variants

FBXL4

165 papers

RefSeq Summary

This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase...

Pfam Domains

F-boxaa 280–322UCSCF-box domain

LRR_FBXL15aa 309–512UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 4

HGNC Alias Symbols

FBL4; FBL5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001278716.2

p.A529E

c.1586C>A

Surrounding Variants

1 paper

NM_001278716.2

p.L518_G523del6

c.1552_1568del18

1 paper

NM_001278716.2

p.P516_S521del0

c.1546_1563del18

10 papers

NM_001278716.2

p.Q519*

c.1555C>T

1 paper

NM_001278716.2

p.L518delFs

c.1552_1553delAG

2 papers

NM_001278716.2

p.T541I

c.1622C>T

1 paper

NM_001278716.2

p.T541K

c.1622C>A

1 paper

NM_001278716.2

p.A542A

c.1626T>G

2 papers

NM_001278716.2

p.W514G

c.1540T>G

1 paper

NM_001278716.2

p.G513V

c.1538G>T

1 paper

NM_001278716.2

p.C547Fs

c.1640delinsTGATCTATFs

1 paper

NM_001278716.2

p.C547fs

c.1639_1640fs

12 papers

NM_001278716.2

p.C547*

c.1641T>A