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.R384S

c.1152G>T

Surrounding Variants

1 paper

NM_012304.5

p.R384S

c.1152G>C

1 paper

NM_012304.5

p.R384W

c.1150A>T

1 paper

NM_012304.5

p.R379R

c.1137C>A

2 papers

NM_012304.5

p.G393S

c.1177G>A

1 paper

NM_012304.5

p.Y374C

c.1121A>G

1 paper

NM_012304.5

p.L397F

c.1189C>T

1 paper

NM_012304.5

p.K403I

c.1208A>T

1 paper

NM_012304.5

p.I409I

c.1227C>T

2 papers

NM_012304.5

p.R353Q

c.1058G>A

1 paper

NM_012304.5

p.S416S

c.1248C>T

1 paper

NM_012304.5

p.T418M

c.1253C>T

1 paper

NM_012304.5

p.E421*

c.1261G>T