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

2 papers

NM_012304.5

p.V166M

c.496G>A

Surrounding Variants

2 papers

NM_012304.5

p.N165N

c.495C>T

1 paper

NM_012304.5

p.K171Q

c.511A>C

1 paper

NM_012304.5

p.R175H

c.524G>A

1 paper

NM_012304.5

p.C178C

c.534C>T

1 paper

NM_012304.5

p.R152Q

c.455G>A

1 paper

NM_012304.5

p.R152W

c.454C>T

2 papers

NM_012304.5

p.P151L

c.452C>T

1 paper

NM_012304.5

p.Y145*

c.435C>A

1 paper

NM_012304.5

p.Y145*

c.435C>G

2 papers

NM_012304.5

p.A138T

c.412G>A

1 paper

NM_012304.5

p.C137W

c.411C>G

1 paper

NM_012304.5

p.R136C

c.406C>T