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

16 papers

NM_001349798.2

p.S462F

c.1385C>T

Surrounding Variants

1 paper

NM_001349798.2

p.S462C

c.1385C>G

5 papers

NM_001349798.2

p.S462Y

c.1385C>A

1 paper

NM_001349798.2

p.S462A

c.1384T>G

7 papers

NM_001349798.2

p.S462P

c.1384T>C

NM_001013415.2

p.S344P

c.1030T>C

2 papers

NM_001349798.2

p.T463S

c.1387A>T

6 papers

NM_001349798.2

p.T463A

c.1387A>G

NM_018315.5

p.T383A

c.1147A>G

1 paper

NM_001349798.2

p.T463P

c.1387A>C

2 papers

NM_001349798.2

p.T463I

c.1388C>T

2 papers

NM_001349798.2

p.T463S

c.1388C>G

1 paper

NM_001349798.2

p.T463ins1

c.1387_1388insATA

1 paper

NM_001349798.2

p.T461_S462insTG

c.1381_1385ins6

1 paper

NM_001349798.2

p.H460Q

c.1380T>G