Varaico: Literature-Extracted Genetic Variants

FBXL13

27 papers

RefSeq Summary

Members of the F-box protein family, such as FBXL13, 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 245–291UCSCF-box-like

LRR_FBXL15aa 310–469UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

LRR_FBXL15aa 460–564UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

LRR_FBXL15aa 561–778UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 13

HGNC Alias Symbols

MGC21636; Fbl13; DRC6; CFAP169

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

2 papers

NM_001394494.2

p.R308W

c.922A>T

1 paper

NM_001394494.2

p.M1K

c.2T>A

1 paper

NM_001394494.2

p.N71insFs

c.211_212insAA

1 paper

NM_001394494.2

p.A99V

c.296C>T

1 paper

NM_001394494.2

p.G105R

c.313G>A

1 paper

NM_001394494.2

p.H148R

c.443A>G

1 paper

NM_001394494.2

p.S192C

c.574A>T

1 paper

NM_001394494.2

p.K211_N212insAA

c.631_635ins6

1 paper

NM_001394494.2

p.A219P

c.655G>C

1 paper

NM_001394494.2

p.R229*

c.685C>T

1 paper

NM_001394494.2

p.R229Q

c.686G>A

1 paper

NM_001394494.2

p.F290S

c.869T>C