Varaico: Literature-Extracted Genetic Variants

FLCN

815 papers

RefSeq Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal t...

Pfam Domains

Folliculinaa 104–265UCSCVesicle coat protein involved in Golgi to plasma membrane transport

Folliculin_Caa 344–566UCSCFolliculin C-terminal domain

Gene Aliases

HGNC Name

folliculin

HGNC Alias Symbols

BHD; MGC17998; MGC23445; DENND8B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144997.7

p.K523fs

c.1567_1568fs

Surrounding Variants

1 paper

NM_144997.7

p.K523N

c.1569G>T

1 paper

NM_144997.7

p.K523R

c.1568A>G

1 paper

NM_144997.7

p.K523insFs

c.1568_1569insG

1 paper

NM_144997.7

p.D525G

c.1574A>G

1 paper

NM_144997.7

p.T522P

c.1564A>C

1 paper

NM_144997.7

p.S526G

c.1576A>G

7 papers

NM_144997.7

p.R527*

c.1579C>T

16 papers

NM_144997.7

p.R527insFs

c.1579_1580insA

2 papers

NM_144997.7

p.K520R

c.1559A>G

7 papers

NM_144997.7

p.R527fs

c.1579_1580fs

2 papers

NM_144997.7

p.R527insFs

c.1580_1581insA

1 paper

NM_144997.7

p.R527Q

c.1580G>A