Varaico: Literature-Extracted Genetic Variants

FBXL19

36 papers

RefSeq Summary

This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its...

Pfam Domains

zf-CXXCaa 11–57UCSCCXXC zinc finger domain

PHD_4aa 62–129UCSCPHD-finger

F-box-likeaa 403–447UCSCF-box-like

Gene Aliases

HGNC Name

F-box and leucine rich repeat protein 19

HGNC Alias Symbols

DKFZp434K0410; Fbl19; JHDM1C; CXXC11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001382779.1

p.R606_E607insC

c.1816_1820ins3

Surrounding Variants

1 paper

NM_001382779.1

p.T621M

c.1862C>T

1 paper

NM_001382779.1

p.L495F

c.1483C>T

1 paper

NM_001382779.1

p.R486*

c.1456C>T

1 paper

NM_001382779.1

p.G459D

c.1376G>A