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.V439V

c.1317G>A

Surrounding Variants

1 paper

NM_144997.7

p.E440fs

c.1318_1319fs

1 paper

NM_144997.7

p.V439M

c.1315G>A

2 papers

NM_144997.7

p.E440delFs

c.1318delC

1 paper

NM_144997.7

p.I438I

c.1314C>T

1 paper

NM_144997.7

p.I438I

c.1314C>A

1 paper

NM_144997.7

p.I438F

c.1312A>T

1 paper

NM_144997.7

p.V437V

c.1311C>A

5 papers

NM_144997.7

p.V441Fs

c.1323delinsGAFs

1 paper

NM_144997.7

p.H442Y

c.1324C>T

1 paper

NM_144997.7

p.H442fs

c.1324_1325fs

1 paper

NM_144997.7

p.V437L

c.1309G>C

1 paper

NM_144997.7

p.V437I

c.1309G>A