Varaico: Literature-Extracted Genetic Variants

FBXL17

47 papers

RefSeq Summary

Members of the F-box protein family, such as FBXL17, 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-box-likeaa 321–368UCSCF-box-like

LRR_FBXL15aa 368–602UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

LRR_6aa 615–639UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 17

HGNC Previous Symbol

FBXO13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001163315.3

p.S97F

c.290C>T

Surrounding Variants

1 paper

NM_001163315.3

p.S95delFs

c.284delG

1 paper

NM_001163315.3

p.P86S

c.256C>T

1 paper

NM_001163315.3

p.S95_A108delFs

c.283_323del41

1 paper

NM_001163315.3

p.E77K

c.229G>A

1 paper

NM_001163315.3

p.A115_R118insFs

c.343_352dup10

1 paper

NM_001163315.3

p.P73S

c.217C>T

1 paper

NM_001163315.3

p.A125T

c.373G>A

1 paper

NM_001163315.3

p.G69S

c.205G>A

1 paper

NM_001163315.3

p.S67I

c.200G>T

1 paper

NM_001163315.3

p.A129_A130del1

c.387_389delGCG

1 paper

NM_001163315.3

p.A130del1

c.388_389delAGC

1 paper

NM_001163315.3

p.L61V

c.181C>G