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

Selected Variant

1 paper

NM_012161.4

p.C159S

c.475T>A

Surrounding Variants

1 paper

NM_012161.4

p.C159S

c.476G>C

1 paper

NM_012161.4

p.Q157E

c.469C>G

1 paper

NM_012161.4

p.A156A

c.468A>C

1 paper

NM_012161.4

p.Q135*

c.403C>T

1 paper

NM_012161.4

p.H207R

c.620A>G

1 paper

NM_012161.4

p.R227L

c.680G>T

1 paper

NM_012161.4

p.C228S

c.682T>A

1 paper

NM_012161.4

p.C228S

c.683G>C

1 paper

NM_012161.4

p.P250T

c.748C>A

1 paper

NM_012161.4

p.E131A

c.392A>C

1 paper

NM_012161.4

p.N98I

c.293A>T

1 paper

NM_012161.4

p.E87K

c.259G>A