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.S185S

c.555C>T

Surrounding Variants

1 paper

NM_144997.7

p.S185S

c.555C>A

4 papers

NM_144997.7

p.S185P

c.553T>C

1 paper

NM_144997.7

p.W186C

c.558G>C

1 paper

NM_144997.7

p.N184K

c.552C>G

1 paper

NM_144997.7

p.N184K

c.552C>A

1 paper

NM_144997.7

p.P187T

c.559C>A

1 paper

NM_144997.7

p.N184S

c.551A>G

1 paper

NM_144997.7

p.N184T

c.551A>C

1 paper

NM_144997.7

p.N184Y

c.550A>T

1 paper

NM_144997.7

p.P187P

c.561C>A

1 paper

NM_144997.7

p.I183I

c.549C>A

3 papers

NM_144997.7

p.F188I

c.562T>A