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

2 papers

NM_144997.7

p.F435L

c.1305T>A

Surrounding Variants

2 papers

NM_144997.7

p.F435L

c.1305T>G

4 papers

NM_144997.7

p.F435delFs

c.1303delA

2 papers

NM_144997.7

p.F435L

c.1303T>C

2 papers

NM_144997.7

p.F435fs

c.1303_1304fs

3 papers

NM_144997.7

p.E434delFs

c.1301_1302delCT

1 paper

NM_144997.7

p.A436D

c.1307C>A

1 paper

NM_144997.7

p.A436A

c.1308T>G

1 paper

NM_144997.7

p.V437L

c.1309G>C

1 paper

NM_144997.7

p.V437I

c.1309G>A

1 paper

NM_144997.7

p.E434fs

c.1300_1301fs

1 paper

NM_144997.7

p.E434G

c.1301A>G

2 papers

NM_144997.7

p.E434*

c.1300G>T