Varaico: Literature-Extracted Genetic Variants

FBXL7

81 papers

RefSeq Summary

This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box p...

Pfam Domains

F-boxaa 114–156UCSCF-box domain

LRR_FBXL15aa 181–321UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

LRR_FBXL15aa 275–482UCSCF-box/LRR-repeat protein 15, leucine rich repeat domain

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 7

HGNC Alias Symbols

KIAA0840; FBL7; FBL6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012304.5

p.H120R

c.359A>G

Surrounding Variants

1 paper

NM_012304.5

p.R116Q

c.347G>A

1 paper

NM_012304.5

p.R116W

c.346C>T

1 paper

NM_012304.5

p.I125M

c.375C>G

1 paper

NM_012304.5

p.I114T

c.341T>C

1 paper

NM_012304.5

p.K109R

c.326A>G

1 paper

NM_012304.5

p.K109E

c.325A>G

1 paper

NM_012304.5

p.T131T

c.393C>T

1 paper

NM_012304.5

p.Q108R

c.323A>G

1 paper

NM_012304.5

p.P107L

c.320C>T

1 paper

NM_012304.5

p.R136C

c.406C>T

1 paper

NM_012304.5

p.A104V

c.311C>T

1 paper

NM_012304.5

p.C137W

c.411C>G