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.F417V

c.1249T>G

Surrounding Variants

1 paper

NM_144997.7

p.N416S

c.1247A>G

1 paper

NM_144997.7

p.N416T

c.1247A>C

3 papers

NM_144997.7

p.L418fs

c.1252_1253fs

1 paper

NM_144997.7

p.L418M

c.1252C>A

10 papers

NM_144997.7

p.L418delFs

c.1252delG

1 paper

NM_144997.7

p.C415C

c.1245C>T

3 papers

NM_144997.7

p.L418fs

c.1252_1253fs

2 papers

NM_144997.7

p.C415Y

c.1244G>A

1 paper

NM_144997.7

p.Y413_R414del2

c.1237_1241del6

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