Varaico: Literature-Extracted Genetic Variants

FBXO10

53 papers

RefSeq Summary

Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-b...

Pfam Domains

F-boxaa 5–45UCSCF-box domain

Beta_helixaa 421–573UCSCRight handed beta helix region

Beta_helixaa 563–685UCSCRight handed beta helix region

NosDaa 702–893UCSCPeriplasmic copper-binding protein (NosD)

Gene Aliases

HGNC Name

F-box protein 10

HGNC Alias Symbol

FBX10

Papers

RefSeq ID

Protein change

DNA change

1–12 of 72 variants

3 papers

NM_012166.3

p.E54K

c.160G>A

2 papers

NM_012166.3

p.R44H

c.131G>A

2 papers

NM_012166.3

p.R108H

c.323G>A

2 papers

NM_012166.3

p.P281L

c.842C>T

2 papers

NM_012166.3

p.C953S

c.2857T>A

2 papers

NM_012166.3

p.C953S

c.2858G>C

1 paper

NM_012166.3

p.E2V

c.5A>T

1 paper

NM_012166.3

p.C26F

c.77G>T

1 paper

NM_012166.3

p.S42I

c.125G>T

1 paper

NM_012166.3

p.W45*

c.134G>A

1 paper

NM_012166.3

p.W45*

c.135G>A

1 paper

NM_012166.3

p.R46W

c.136C>T