Varaico: Literature-Extracted Genetic Variants

FBXW7

1,795 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin pr...

Pfam Domains

F-box-likeaa 281–327UCSCF-box-like

WD40aa 370–407UCSCWD domain, G-beta repeat

Beta-prop_IFT122_1staa 427–694UCSCIFT122 first beta-propeller

Gene Aliases

HGNC Name

F-box and WD repeat domain containing 7

HGNC Alias Symbols

FLJ11071; SEL-10; SEL10; FBW7; FBX30; FBXW6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001013415.2

p.N572fs

c.1714_1715fs

Surrounding Variants

1 paper

NM_001013415.2

p.R571_N572delFs

c.1713_1714delTC

3 papers

NM_001349798.2

p.R689L

c.2066G>T

19 papers

NM_001349798.2

p.R689Q

c.2066G>A

81 papers

NM_001349798.2

p.R689W

c.2065C>T

NM_018315.5

p.R609W

c.1825C>T

NM_001013415.2

p.R571W

c.1711C>T

1 paper

NM_001349798.2

p.R689R

c.2065C>A

2 papers

NM_001349798.2

p.S688I

c.2063G>T

1 paper

NM_001349798.2

p.T692A

c.2074A>G

1 paper

NM_001349798.2

p.T692fs

c.2074_2075fs

1 paper

NM_001349798.2

p.T692T

c.2076T>C

3 papers

NM_001349798.2

p.G687V

c.2060G>T

1 paper

NM_001349798.2

p.G687E

c.2060G>A

1 paper

NM_001349798.2

p.E693*

c.2077G>T