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.S303F

c.908C>T

Surrounding Variants

1 paper

NM_001163315.3

p.P316insFs

c.948dupC

1 paper

NM_001163315.3

p.E317fs

c.949_950fs

2 papers

NM_001163315.3

p.I328V

c.982A>G

1 paper

NM_001163315.3

p.G235fs

c.703_704fs

1 paper

NM_001163315.3

p.P232L

c.695C>T

1 paper

NM_001163315.3

p.G231del1

c.691_692delCCC

1 paper

NM_001163315.3

p.G221C

c.661G>T

1 paper

NM_001163315.3

p.G201R

c.601G>C

1 paper

NM_001163315.3

p.G201R

c.601G>A

1 paper

NM_001163315.3

p.K200R

c.599A>G

1 paper

NM_001163315.3

p.K200Q

c.598A>C

1 paper

NM_001163315.3

p.P192T

c.574C>A