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.S461I

c.1382G>T

Surrounding Variants

4 papers

NM_144997.7

p.S461insFs

c.1381_1382insA

1 paper

NM_144997.7

p.S461N

c.1382G>A

1 paper

NM_144997.7

p.S461S

c.1383C>T

1 paper

NM_144997.7

p.S461fs

c.1381_1382fs

15 papers

NM_144997.7

p.L460delFs

c.1379_1380delGA

1 paper

NM_144997.7

p.L460L

c.1380C>T

2 papers

NM_144997.7

p.L460fs

c.1378_1379fs

1 paper

NM_144997.7

p.K462_Y463insC

c.1384_1388ins3

2 papers

NM_144997.7

p.K462M

c.1385A>T

1 paper

NM_144997.7

p.K462R

c.1385A>G

4 papers

NM_144997.7

p.L460fs

c.1378_1379fs

5 papers

NM_144997.7

p.Y463H

c.1387T>C