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.P427P

c.1281C>G

Surrounding Variants

1 paper

NM_144997.7

p.P428S

c.1282C>T

1 paper

NM_144997.7

p.P427L

c.1280C>T

1 paper

NM_144997.7

p.P428A

c.1282C>G

1 paper

NM_144997.7

p.P427H

c.1280C>A

4 papers

NM_144997.7

p.P428L

c.1283C>T

2 papers

NM_144997.7

p.P428R

c.1283C>G

1 paper

NM_144997.7

p.P427A

c.1279C>G

1 paper

NM_144997.7

p.P428insFs

c.1283_1284insG

3 papers

NM_144997.7

p.P428insFs

c.1283_1284insA

2 papers

NM_144997.7

p.P428H

c.1283C>A

1 paper

NM_144997.7

p.P427T

c.1279C>A

2 papers

NM_144997.7

p.I426I

c.1278C>T