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.R49H

c.146G>A

Surrounding Variants

1 paper

NM_012304.5

p.T53M

c.158C>T

1 paper

NM_012304.5

p.A57A

c.171C>A

1 paper

NM_012304.5

p.P62R

c.185C>G

1 paper

NM_012304.5

p.P65S

c.193C>T

1 paper

NM_012304.5

p.P65L

c.194C>T

1 paper

NM_012304.5

p.S77L

c.230C>T

1 paper

NM_012304.5

p.S78S

c.234C>G

1 paper

NM_012304.5

p.G82W

c.244G>T

1 paper

NM_012304.5

p.H89Y

c.265C>T

1 paper

NM_012304.5

p.P91T

c.271C>A

2 papers

NM_012304.5

p.P91L

c.272C>T

1 paper

NM_012304.5

p.P92S

c.274C>T