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

1 paper

NM_001278716.2

p.P416R

c.1247C>G

Surrounding Variants

5 papers

NM_001278716.2

p.C411Y

c.1232G>A

4 papers

NM_001278716.2

p.S410F

c.1229C>T

1 paper

NM_001278716.2

p.S410P

c.1228T>C

4 papers

NM_001278716.2

p.Q404*

c.1210C>T

1 paper

NM_001278716.2

p.L403L

c.1209A>G

2 papers

NM_001278716.2

p.R430*

c.1288C>T

1 paper

NM_001278716.2

p.V432A

c.1295T>C

1 paper

NM_001278716.2

p.L433V

c.1297C>G

1 paper

NM_001278716.2

p.L433R

c.1298T>G

2 papers

NM_001278716.2

p.E398D

c.1194G>T

2 papers

NM_001278716.2

p.E398D

c.1194G>C

20 papers

NM_001278716.2

p.R435*

c.1303C>T