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

Selected Variant

1 paper

NM_012166.3

p.Q336L

c.1007A>T

Surrounding Variants

1 paper

NM_012166.3

p.V340insFs

c.1019_1020insAT

1 paper

NM_012166.3

p.V340fs

c.1018_1019fs

1 paper

NM_012166.3

p.E345*

c.1033G>T

1 paper

NM_012166.3

p.S353N

c.1058G>A

1 paper

NM_012166.3

p.E298*

c.892G>T

1 paper

NM_012166.3

p.R382H

c.1145G>A

1 paper

NM_012166.3

p.P383L

c.1148C>T

1 paper

NM_012166.3

p.D288G

c.863A>G

2 papers

NM_012166.3

p.P281L

c.842C>T

1 paper

NM_012166.3

p.Q412*

c.1234C>T

1 paper

NM_012166.3

p.Q412delFs

c.1234delG

1 paper

NM_012166.3

p.C246_E247delFs

c.738_739delCA