Varaico: Literature-Extracted Genetic Variants

FBXL5

40 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin pr...

Pfam Domains

Hemerythrinaa 6–138UCSCHemerythrin HHE cation binding domain

F-box-likeaa 205–250UCSCF-box-like

LRR_6aa 381–405UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 5

HGNC Alias Symbols

FBL4; FBL5; FLR1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

2 papers

NM_012161.4

p.E61A

c.182A>C

1 paper

NM_012161.4

p.P3_F4insFs

c.9_10insT

1 paper

NM_012161.4

p.P5P

c.15T>C

1 paper

NM_012161.4

p.L29F

c.85C>T

1 paper

NM_012161.4

p.E58Q

c.172G>C

1 paper

NM_012161.4

p.E58A

c.173A>C

1 paper

NM_012161.4

p.E58D

c.174G>T

1 paper

NM_012161.4

p.E58D

c.174G>C

1 paper

NM_012161.4

p.D82N

c.244G>A

1 paper

NM_012161.4

p.N83D

c.247A>G

1 paper

NM_012161.4

p.K84K

c.252A>G

1 paper

NM_012161.4

p.E87K

c.259G>A