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

5 papers

NM_001278716.2

p.G149R

c.445G>C

Surrounding Variants

6 papers

NM_001278716.2

p.G149R

c.445G>A

1 paper

NM_001278716.2

p.H141Y

c.421C>T

5 papers

NM_001278716.2

p.V140A

c.419T>C

1 paper

NM_001278716.2

p.P137L

c.410C>T

1 paper

NM_001278716.2

p.Y162*

c.486T>G

1 paper

NM_001278716.2

p.Y162*

c.486T>A

1 paper

NM_001278716.2

p.Q133L

c.398A>T

1 paper

NM_001278716.2

p.A168P

c.502G>C

1 paper

NM_001278716.2

p.V170G

c.509T>G

1 paper

NM_001278716.2

p.Q122*

c.364C>T

1 paper

NM_001278716.2

p.T117T

c.351G>A

1 paper

NM_001278716.2

p.S109delFs

c.326delC