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.S246fs

c.736_737fs

Surrounding Variants

1 paper

NM_144997.7

p.S246G

c.736A>G

1 paper

NM_144997.7

p.S246delFs

c.736delT

2 papers

NM_144997.7

p.T245T

c.735A>T

1 paper

NM_144997.7

p.T245T

c.735A>G

1 paper

NM_144997.7

p.T245T

c.735A>C

1 paper

NM_144997.7

p.T245I

c.734C>T

1 paper

NM_144997.7

p.T245K

c.734C>A

1 paper

NM_144997.7

p.T245_S246delFs

c.735_738del4

1 paper

NM_144997.7

p.D247A

c.740A>C

1 paper

NM_144997.7

p.L244P

c.731T>C

1 paper

NM_144997.7

p.D248N

c.742G>A

2 papers

NM_144997.7

p.S243S

c.729G>A