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.E455G

c.1364A>G

Surrounding Variants

1 paper

NM_144997.7

p.E455D

c.1365G>T

1 paper

NM_144997.7

p.E455_D456insFs

c.1365_1366insT

1 paper

NM_144997.7

p.E455D

c.1365G>C

1 paper

NM_144997.7

p.E455K

c.1363G>A

1 paper

NM_144997.7

p.D456fs

c.1366_1367fs

1 paper

NM_144997.7

p.D456Y

c.1366G>T

1 paper

NM_144997.7

p.D456H

c.1366G>C

1 paper

NM_144997.7

p.D456N

c.1366G>A

1 paper

NM_144997.7

p.C454insFs

c.1360dupT

1 paper

NM_144997.7

p.D456G

c.1367A>G

1 paper

NM_144997.7

p.C454G

c.1360T>G

1 paper

NM_144997.7

p.C454R

c.1360T>C