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

1–12 of 1746 variants

151 papers

NM_144997.7

p.H429insFs

c.1285dupC

77 papers

NM_144997.7

p.H429delFs

c.1285delG

59 papers

NM_144997.7

p.H429fs

c.1285_1286fs

41 papers

NM_144997.7

p.H429fs

c.1285_1286fs

33 papers

NM_144997.7

p.R477*

c.1429C>T

33 papers

NM_144997.7

p.K508R

c.1523A>G

29 papers

NM_144997.7

p.R239C

c.715C>T

29 papers

NM_144997.7

p.R578insFs

c.1733_1734insC

25 papers

NM_144997.7

p.L449_P451insFs

c.1347_1353dup7

23 papers

NM_144997.7

p.A204delins

c.610_611delinsTA

19 papers

NM_144997.7

p.H255R

c.764A>G

19 papers

NM_144997.7

p.W511_M512delFs

c.1533_1536del4