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.R476C

c.1426C>T

Surrounding Variants

1 paper

NM_012304.5

p.C478*

c.1434C>A

1 paper

NM_012304.5

p.R480S

c.1438C>A

2 papers

NM_012304.5

p.R480C

c.1438C>T

1 paper

NM_012304.5

p.R480H

c.1439G>A

1 paper

NM_012304.5

p.V482I

c.1444G>A

2 papers

NM_012304.5

p.F490L

c.1468T>C

2 papers

NM_012304.5

p.F490L

c.1470C>A

2 papers

NM_012304.5

p.F490L

c.1470C>G

1 paper

NM_012304.5

p.T458M

c.1373C>T

1 paper

NM_012304.5

p.D455N

c.1363G>A

1 paper

NM_012304.5

p.A450P

c.1348G>C

1 paper

NM_012304.5

p.G443G

c.1329C>G