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.E202_P203insFs

c.606_607insC

Surrounding Variants

1 paper

NM_001382779.1

p.T205insFs

c.614dupC

1 paper

NM_001382779.1

p.R175H

c.524G>A

1 paper

NM_001382779.1

p.A154V

c.461C>T

1 paper

NM_001382779.1

p.D137N

c.409G>A

1 paper

NM_001382779.1

p.K136_D137Splc

c.409-1G>A

1 paper

NM_001382779.1

p.I115I

c.345C>T

1 paper

NM_001382779.1

p.G234D

c.701G>A

1 paper

NM_001382779.1

p.V61M

c.181G>A

1 paper

NM_001382779.1

p.R55Q

c.164G>A

2 papers

NM_001382779.1

p.C30delFs

c.88delT

1 paper

NM_001382779.1

p.R14Q

c.41G>A

1 paper

NM_001382779.1

p.A10T

c.28G>A