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.P91L

c.272C>T

Surrounding Variants

1 paper

NM_012304.5

p.P91T

c.271C>A

1 paper

NM_012304.5

p.P92S

c.274C>T

1 paper

NM_012304.5

p.P93T

c.277C>A

1 paper

NM_012304.5

p.P93Q

c.278C>A

1 paper

NM_012304.5

p.P93L

c.278C>T

1 paper

NM_012304.5

p.H89Y

c.265C>T

2 papers

NM_012304.5

p.H98Y

c.292C>T

1 paper

NM_012304.5

p.H98L

c.293A>T

1 paper

NM_012304.5

p.H98Q

c.294C>A

1 paper

NM_012304.5

p.H98Q

c.294C>G

1 paper

NM_012304.5

p.G82W

c.244G>T

1 paper

NM_012304.5

p.R102Q

c.305G>A