Varaico: Literature-Extracted Genetic Variants

FBXW9

30 papers

RefSeq Summary

Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-bo...

Pfam Domains

F-box-likeaa 79–126UCSCF-box-like

WD40aa 165–201UCSCWD domain, G-beta repeat

WD40aa 214–252UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 9

HGNC Alias Symbols

MGC10870; Fbw9; MEC-15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032301.3

p.S22*

c.65C>G

Surrounding Variants

1 paper

NM_032301.3

p.S22*

c.65C>A

1 paper

NM_032301.3

p.D16N

c.46G>A

1 paper

NM_032301.3

p.A30V

c.89C>T

1 paper

NM_032301.3

p.R12P

c.35G>C

1 paper

NM_032301.3

p.D10H

c.28G>C

1 paper

NM_032301.3

p.S39N

c.116G>A

1 paper

NM_032301.3

p.E2E

c.6G>A

1 paper

NM_032301.3

p.K42*

c.124A>T

1 paper

NM_032301.3

p.E2K

c.4G>A

1 paper

NM_032301.3

p.S48W

c.143C>G

1 paper

NM_032301.3

p.R70K

c.209G>A

1 paper

NM_032301.3

p.S72_A73insFs

c.216_217insA