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.L420L

c.1260C>G

Surrounding Variants

1 paper

NM_144997.7

p.L420L

c.1260C>T

2 papers

NM_144997.7

p.L420F

c.1258C>T

1 paper

NM_144997.7

p.G419G

c.1257G>A

1 paper

NM_144997.7

p.S421delFs

c.1262delC

2 papers

NM_144997.7

p.G419V

c.1256G>T

1 paper

NM_144997.7

p.P422T

c.1264C>A

1 paper

NM_144997.7

p.G419W

c.1255G>T

1 paper

NM_144997.7

p.G419R

c.1255G>C

2 papers

NM_144997.7

p.G419R

c.1255G>A

1 paper

NM_144997.7

p.P422L

c.1265C>T

3 papers

NM_144997.7

p.L418fs

c.1252_1253fs

1 paper

NM_144997.7

p.P422P

c.1266G>A